Dissertations / Theses: 'ACTN1'

1

Zablocki, Destinee Elizabeth. "Differential Expression of Calsarcin Genes in Orthognathic Surgery Patients with ACTN3 R577X Gene Deviations." Master's thesis, Temple University Libraries, 2016. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/405298.

Full text

Abstract:

Oral Biology M.S. Objective: Malocclusion is a complex musculoskeletal trait, with muscle playing an integral role in vertical facial development. A single nucleotide polymorphism (SNP) produces the R577XX nonsense mutation in the alpha-actinin-3 (ACTN3) gene, creating a stop codon and loss of its protein. With loss of ACTN3, alpha-actinin-2 (ACTN2) is upregulated. Calsarcins, known inhibitors of calcineurin activation, preferentially bind ACTN2 leading to a surge in free calcineurin. The increase in calcineurin activity produces the phenotypic shift of fast muscle fibers toward the slow myogenic program seen in the ACTN3 null genotype (Seto et al., 2013). Here, we have tested whether calsarcin gene expression is affected by ACTN3 genotypes in human masseter muscle. Methods: Subjects undergoing orthodontic treatment and orthognathic surgery were recruited from the University of Lille, Department of Oral and Maxillofacial Surgery in Northern France. During the bilateral sagittal split osteotomy, masseter muscle samples were collected from the discarded section of deep anterior superficial masseter muscle, snap frozen, and shipped to Dr. Sciote’s lab at Temple University. RNA from masseter muscle samples was isolated from 41 subjects using TRIzolTM reagent. MYOZ gene expression was quantified by RT-PCR using an adult skeletal muscle reference standard (commercially prepared skeletal muscle RNA; Ambion, Inc), and individual primer-probe sets for MYOZ1, MYOZ2, MYOZ3, and HPRT1 (utilized for normalization of data). ANOVA and unpaired t-tests were used to determine the significance of expression differences between MYOZ genes and by ACTN3 R577X genotypes, as well as by malocclusion classes. Pearson analyses were used to determine correlations between MYOZ expression and fiber type mean percent occupancies. Results: The main aim of this project was to determine whether expression of the three calsarcin genes, MYOZ1, 2, and 3, differs between subjects with RR, RX and XX genotypes for the ACTN3 gene, as well as between sagittal and vertical classes of malocclusion, asymmetries and TMD. Differences were found for MYOZ3 expression where relative quantities in males, but not females, decreased progressively from the ACTN3 RR, to RX, and XX genotypes. Among subjects with the RX genotype, expression differed significantly between males and females by an unpaired t-test. A statistically significant difference was detected between MYOZ2 and Class II, Class III malocclusions (p=0.05). Sagittal differences were compared further by ANOVA analyses with a statistically significant difference detected for MYOZ3 with a probability of 0.02. Correlation analyses comparing fiber type mean % occupancy with calsarcin gene expression revealed a significant positive relationship between MYOZ2 and type I (slow-twitch) fibers. Correspondingly, a significant correlation of MYOZ2 expression with type IIA and IIX (fast-twitch) fibers was negative. Conclusions: The greatest relative quantity of RNA for the three calsarcin genes was found in MYOZ3, suggesting more calsarcin-3 may be needed in masticatory muscle structure and function than other calsarcin isoforms. Alternatively, high expression of MYOZ3 in the masseter samples may indicate that there are relatively greater amounts of that isoform in cranial muscle than in the limb skeletal muscle standard used in these studies. Also, relative quantities of MYOZ3 expression in males decreased progressively from the ACTN3 RR, to RX, and XX genotypes. While this data may suggest that the ACTN3 R577X polymorphism may affect MYOZ3 expression in males of the malocclusion patient population, an increased sample of male subjects would be needed to determine if this trend has true significance. Expression of MYOZ2 (calsarcin-1) was strongly correlated with slow fiber-type occupancy in masseter muscle of our patient population. The muscle-specific expression of each calsarcin may lend to the understanding of this result. MYOZ2 is the only isoform found in both cardiac muscle and slow-twitch skeletal muscle, while MYOZ1 and MYOZ3 are both found in skeletal muscle with a predilection towards fast-twitch skeletal muscle (Frey et al., 2004). Temple University--Theses

APA, Harvard, Vancouver, ISO, and other styles

2

Zebrick, Brian Matthew. "ACTN3 R577X GENOTYPES ASSOCIATE WITH CLASS II AND DEEP BITE MALOCCLUSIONS." Master's thesis, Temple University Libraries, 2015. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/329277.

Full text

Abstract:

Oral Biology M.S. Alpha-actinins are myofibril anchor proteins, which influence contractile properties of skeletal muscle. ACTN2 is expressed in slow type I and fast type II fibers whereas ACTN3 is expressed only in fast fibers. ACTN3 homozygosity for the 577X stop codon (i.e. changing 577RR to 577XX - the R577X polymorphism) results in the absence of alpha-actinin-3 in about 18% of Europeans, diminished fast contractile ability, enhanced endurance performance, and reduced bone mass or bone mineral density. We have examined ACTN3 expression and genetic variation in masseter muscle of orthognathic surgery patients to determine genotype associations with malocclusion. To determine the associations between genotypes and malocclusions, clinical information, masseter muscle biopsies, and saliva samples were obtained from 60 subjects. Genotyping for ACTN3 SNPs, RT-PCR quantitation of muscle gene message, and muscle morphometric fiber type properties were compared to determine statistical differences between genotype and phenotype. We found muscle mRNA expression level was significantly different for ACTN3 SNP genotypes (p<0.01). The frequency of ACTN3 genotypes was significantly different for sagittal and vertical classifications of malocclusion with the clearest association being elevated 577XX genotype in skeletal Class II malocclusion (p = 0.003). This genotype also resulted in significantly smaller diameter of fast type II fibers in masseter muscle (p=0.002). In conclusion, ACTN3 577XX is overrepresented in skeletal Class II malocclusion, suggesting a biologic influence during bone growth. ACTN3 577XX is underrepresented in deep bite malocclusion, suggesting muscle differences contribute to variations in vertical facial dimensions. Temple University--Theses

APA, Harvard, Vancouver, ISO, and other styles

3

Nicholl, Sarah. "Characterisation of AAE7/ACN1 and aconitase isoforms from Arabidopsis thaliana." Thesis, Bangor University, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.536471.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

Hong, Lingzi. "Act1-Mediated RNA Metabolism in IL-17-Driven Inflammatory Diseases." Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case162673878106271.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

Sniečkus, Audrius. "Raumenų pažaidos priklausomumas nuo krūvio išdėstymo strategijos, sportininkų specializacijos ir genotipo." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2013. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2013~D_20130610_125924-56862.

Full text

Abstract:

Neįprasti didelio intensyvumo (ypač ekscentriniai) raumenų susitraukimai gali sukelti raumenų pažaidą (Yanagisawa et al., 2011; Neme et al., 2013), kuri pasireiškia sumažėjusia raumenų susitraukimo jėga Byrne et al., 2004; Skurvydas et al., 2010) miofibrilių Z linijos morfologiniais pokyčiais (Feasson et al., 2002), baltymų ištekėjimu iš pažeistų raumens skaidulų, raumenų skausmu, patinimu ir padidėjusiu standumu (Malisoux et al., 2006; Chen et al., 2013). Pažaida dažna pradėjus intensyviai treniruotis po santykinai mažo fizinio aktyvumo laikotarpio arba kaitant krūvio parametrus (intensyvumą, apimtį) siekiant išvengti monotonijos ir sukelti didžiausią adaptacinį atsaką (Bompa, 1999; Issurin, 2010). Ankstesniuose tyrimuose taikyti vienodo dydžio krūviai neatitinka sportinių pratybų specifiškumo (Nosaka, Clarkson, 1995; Chen, Hsieh, 2001): pratybose krūvio apimtis ir intensyvumas nuolatos keičiami, taikomos įvairios krūvio didinimo strategijos. Išlieka neaišku, kaip kinta raumenų pažaida ir motorinė funkcija didinant fizinį krūvį taikant skirtingas strategijas. Kėlėme hipotezę, kad: 1) nuosekliai didinamas krūvis sukelia mažesnę raumenų pažaidą, palyginti su staigiai didinamu krūviu, nes motorinė sistema labai jautriai reaguoja į krūvio didinimo greitį; 2) treniruotės ciklo metu periodiškai pasireiškianti didesnė raumenų pažaida dėl superkompensacijos gali sukelti didesnę ilgalaikę griaučių raumenų adaptaciją (masės ir jėgos prieaugį). R. Lynn ir D. L. Morgan (1994) nustatė... [toliau žr. visą tekstą] Unaccustomed muscle exercise, especially when it involves high-strain eccentric contractions, causes muscle damage (Yanagisawa et al., 2011; Neme et al., 2013). Muscle damage manifests in altered Z-disk morphology (Feasson et al., 2002), prolonged impairment of muscle force (Byrne et al., 2004; Skurvydas et al., 2010), protein leakage from injured muscle fibres, delayed-onset muscle soreness, and increased passive muscle stiffness and swelling (Malisoux et al., 2006; Chen et al., 2013). Muscle damage is frequently induced by sports training, where physical load parameters are being varied on the temporal scale to avoid monotony and maximize the adaptations (Bompa 1999; Issurin, 2010). However, there are limited data on the development of muscle damage and its impact on muscle function when variant exercise training schemes are applied. More needs to be learned about the impact of different strategies of load increase on exercise-induced muscle damage in order to identify progression regimes that can optimize neuromuscular adaptation processes. Therefore, we have followed the dynamics of muscle function during the stretch–shortening exercise with differently increasing load. We increased training stimulus by varying the volume, intensity, and range of motion. According to Nosaka (2008), these components of the eccentric contraction training are the most important for adaptation of the skeletal muscle. We hypothesized that the progressive increase in training load would induce... [to full text]

APA, Harvard, Vancouver, ISO, and other styles

6

Binti, Ahmad Yusof Hazwani. "The Effects of Angiotensin I-Converting Enzyme (ACE) I/D and Alpha-Actinin-3 (ACTN3) R/X Gene Polymorphisms on Human Physical Performance and Health within Malaysian Population." Thesis, The University of Sydney, 2015. http://hdl.handle.net/2123/14722.

Full text

Abstract:

A disparity population data set in the current literature with limited reports among Asian samples, coupled with the inconsistent findings among different ethnic groups, and lack of information for the involvement of angiotensin I-converting enzyme (ACE) I/D and alpha-actinin-3 (ACTN3) R/X gene polymorphisms in training adaptation have limited the ability of researchers to draw meaningful conclusions pertaining to the effects of these polymorphisms on human physical performance and health. Therefore, this doctoral research implemented three series of studies to examine the effects of ACE I/D and ACTN3 R/X gene polymorphisms on human physical performance and health within the Malaysian population. In the first study, DNA samples were retrieved via buccal cell from 180 Asians from Malaysia (70 males, 110 females) aged 20.4 ± 1.6 years, and 180 Caucasians from Australia (62 males, 118 females) aged 23.3 ± 3.6 years. In the second study, DNA samples were retrieved from 180 well-trained Malaysian athletes (148 males, 32 females) aged 20.5 ± 1.9 years, 180 Malaysian sedentary controls, and 33 intermittent Australian athletes (all males) aged 20.7 ± 4.0 years. Endurance and muscular performances of Malaysian athletes were evaluated with 20 meters Yo-Yo intermittent recovery level 2 and maximal voluntary contraction tests, respectively. In the third study, thirty normotensive, untrained males (ACE genotype: II = 10, ID = 10, and DD = 10), undergone isometric handgrip training (four sets of 2 minutes isometric contractions at 30% of maximal voluntary contraction, with 1 minute resting interval) 3 days per week for 8 weeks. The result from the first study indicated that the distribution of ACE I/D gene polymorphism varied among different ethnic groups, but not to ACTN3 R/X gene polymorphism. The findings obtained from the second study demonstrated that: a) The effects of these polymorphisms on endurance and strength/power performances did not vary by ethnicity, b) The ACE D allele and ACTN3 R allele conferred an advantage in activities that require strength/power, and c) The ACE I allele and ACTN3 X allele did not influence endurance performance. Finding from the final study demonstrated that ACE I/D gene polymorphism had a positive influence in cardiovascular and muscular adaptations following isometric handgrip training among normotensive men. Overall, this research reaffirms the notion that strength/power performance is influenced by the ACE D allele and ACTN3 R allele. In addition, this research concludes that the ACE I/D gene polymorphism modulates response to isometric handgrip training in normotensive men.

APA, Harvard, Vancouver, ISO, and other styles

7

Swaidani, Shadi. "THE ROLE OF ACT1 IN IL-25 DEPENDENT TH2 RESPONSES AND ALLERGIC AIRWAY INFLAMMATION AND AIRWAY HYPERRESPONSIVENESS." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270240862.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

Vilella-Arias, Santiago Andrés. "Estudo de candidatos a biomarcadores moleculares de prognóstico em carcinoma renal de células claras." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/46/46131/tde-20032014-075848/.

Full text

Abstract:

O carcinoma de células renais (CCR) é o tumor mais agressivo que afeta o rim de pessoas adultas. O CCR é uma doença heterogênea, com diferentes alterações moleculares e variados patrões histológicos e clínicos que apresentam evolução diferente. Atualmente apenas variáveis anatomopatológicas clássicas são utilizadas para determinar o prognóstico dos pacientes. Utilizando uma plataforma de microarranjos de DNA, nosso grupo identificou em um trabalho anterior um conjunto de genes que se encontram diferencialmente expressos em tumores de rim. Neste estudo, nove candidatos foram selecionados para avaliação como marcadores de prognóstico no CCR. Foi confirmada a alteração na expressão dos genes ARNTL, ACTN4 e EPAS1 (p < 0,05) em amostras tumorais de CCR através de PCR em tempo real. Adicionalmente, foi observada a alteração da expressão dos genes ARNTL, EPAS1 e CASP7 em linhagens celulares imortalizadas derivadas de tumores renais, recapitulando por tanto, as alterações observadas nos tumores obtidos de pacientes. Posteriormente investigamos o padrão de expressão proteica destes candidatos por imunohistoquímica utilizando microarranjos de tecidos. Foi detectada a diminuição significativa (p < 0,05) da expressão das proteínas ACTN4, ARNTL, CASP7 e EPAS1 em tumores de pacientes com CCR relativamente ao tecido renal não tumoral. Além disso, foi possível determinar valores de imunomarcação capazes de estratificar pacientes com CCR em diferentes grupos de risco quanto à sobrevida câncer-específica, que adicionalmente apresentaram associação significativa com parâmetros anatomopatológicos utilizados na clínica. As imunomarcações de ACTN4, ARNTL, e EPAS1 se mostraram parâmetros independentes de prognóstico de sobrevida dos pacientes. A imunomarcação de CASP7 foi capaz de identificar subgrupos de pacientes com pior prognóstico dentro de um conjunto de pacientes de baixo risco em função do estadio clinico, além de identificar pacientes com menor risco de morte pelo câncer entre aqueles apresentaram recorrência em até 5 após a cirurgia. O conjunto de resultados obtidos aponta para um novo conjunto de biomarcadores moleculares com potencial relevância para auxiliar no prognóstico de pacientes com carcinoma de células renais. The renal cell carcinoma (RCC) is the most aggressive tumor that affects the kidney in adult people. The RCC is a heterogeneous disease, with many different molecular alterations and varied histological and clinical patterns with different outcome. Currently, only classic anatomopathological variables are used to determine patients\' prognosis. Using a DNA microarray platform, our group identified in a previous work a set of genes differentially expressed in renal tumors. In this study, nine candidates were selected for evaluation as prognostic biomarkers in RCC. Alteration of the gene expression in RCC tumor samples was confirmed for ARNTL, ACTN4 and EPAS1 (p < 0.05) by real time PCR. Additionally, gene expression changes of ARNTL, EPAS1 and CASP7 were also observed in immortalized cell lines derived from renal tumors, recapitulating the expression changes detected in the patients\' tumors. Next, we used tissue microarrays to investigate the protein expression of the selected candidates by immunohistochemistry. Expression of the proteins ACTN4, ARNTL, CASP7 and EPAS1 was detected as significantly downregulated (p < 0.05) in patients´ tumors relative to non-tumor renal tissue. Furthermore, immunostaining patterns of the selected candidates were able to stratify patients with RCC in different risk groups according to cancer-specific survival, which also showed significant associations with anatomopathological parameters used in the clinics. ACTN4, ARNTL and EPAS1 immunostaining resulted as independent prognostic parameters of patient survival. CASP7 immunostaining was able to identify subgroups of patients with worse prognosis in a set of low risk patients as determined by their clinical stage, and also identified patients with lower risk of death from cancer amongst patients that relapsed within 5 years after surgery. Overall, these results point to a new set of molecular biomarkers with potential relevance to help in the prognosis of patients with renal cell carcinoma.

APA, Harvard, Vancouver, ISO, and other styles

9

Velichko, Sharlene, Xu Zhou, Lingxiang Zhu, Johnathon David Anderson, Reen Wu, and Yin Chen. "A Novel Nuclear Function for the Interleukin-17 Signaling Adaptor Protein Act1." PUBLIC LIBRARY SCIENCE, 2016. http://hdl.handle.net/10150/621947.

Full text

Abstract:

In the context of the human airway, interleukin-17A (IL-17A) signaling is associated with severe inflammation, as well as protection against pathogenic infection, particularly at mucosal surfaces such as the airway. The intracellular molecule Act1 has been demonstrated to be an essential mediator of IL-17A signaling. In the cytoplasm, it serves as an adaptor protein, binding to both the intracellular domain of the IL-17 receptor as well as members of the canonical nuclear factor kappa B (NF-kappa B) pathway. It also has enzymatic activity, and serves as an E3 ubiquitin ligase. In the context of airway epithelial cells, we demonstrate for the first time that Act1 is also present in the nucleus, especially after IL-17A stimulation. Ectopic Act1 expression can also increase the nuclear localization of Act1. Act1 can up-regulate the expression and promoter activity of a subset of IL-17A target genes in the absence of IL-17A signaling in a manner that is dependent on its N- and C-terminal domains, but is NF-kappa B independent. Finally, we show that nuclear Act1 can bind to both distal and proximal promoter regions of DEFB4, one of the IL-17A responsive genes. This transcriptional regulatory activity represents a novel function for Act1. Taken together, this is the first report to describe a non-adaptor function of Act1 by directly binding to the promoter region of IL-17A responsive genes and directly regulate their transcription.

APA, Harvard, Vancouver, ISO, and other styles

10

Wagle, John P., Kevin M. Carroll, Aaron J. Cunanan, et al. "Preliminary Investigation Into the Effect of ACTN3 and ACE Polymorphisms on Muscle and Performance Characteristics." Digital Commons @ East Tennessee State University, 2018. https://dc.etsu.edu/etsu-works/4663.

Full text

Abstract:

The purpose of this investigation was to explore the phenotypic and performance outcomes associated with ACTN3 and ACE polymorphisms. Ten trained men (age = 25.8 ± 3.0 years, height = 183.3 ± 4.1 cm, body mass = 92.3 ± 9.3 kg, and back squat to body mass ratio = 1.8 ± 0.3) participated. Blood samples were analyzed to determine ACTN3 and ACE polymorphisms. Standing ultrasonography images of the vastus lateralis (VL) were collected to determine whole muscle cross-sectional area (CSA-M), and a percutaneous muscle biopsy of the VL was collected to determine type I–specific CSA (CSA-T1), type II–specific CSA (CSA-T2), and type II to type I CSA ratio (CSA-R). Isometric squats were performed on force platforms with data used to determine peak force (IPF), allometrically scaled peak force (IPFa), and rate of force development (RFD) at various timepoints. One repetition maximum back squats were performed, whereby allometrically scaled dynamic strength (DSa) was determined. Cohen's d effect sizes revealed ACTN3 RR and ACE DD tended to result in greater CSA-M but differ in how they contribute to performance. ACTN3 RR's influence seems to be in the type II fibers, altering maximal strength, and ACE DD may influence RFD capabilities through a favorable CSA-R. Although the findings of the current investigation are limited by the sample size, the findings demonstrate the potential influence of ACTN3 and ACE polymorphisms on isometric and dynamic strength testing. This study may serve as a framework to generate hypotheses regarding the effect of genetics on performance.

APA, Harvard, Vancouver, ISO, and other styles

11

Wu, Ling. "A HYPER TH17 RESPONSE CONNECTS THE PSORIASIS-ASSOCIATED ACT1 VARIANT TO SKIN INFLAMMATION." Case Western Reserve University School of Graduate Studies / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=case1409866338.

Full text

APA, Harvard, Vancouver, ISO, and other styles

12

Allard-Chamard, Xavier. "Impact du génotype de l'ACTN3 sur la conservation et l'évolution de la force musculaire chez les individus atteints de dystrophie myotonique de type 1." Master's thesis, Université Laval, 2018. http://hdl.handle.net/20.500.11794/33549.

Full text

Abstract:

Protocole d'entente entre l'Université Laval et l'Université du Québec à Chicoutimi Le but de cette investigation vise à analyser l’impact du génotype de l’ACTN3 sur la conservation et l’évolution de la force musculaire chez les individus atteints de DM1. Cette étude se veut une recherche longitudinale, les patients ayant été évalués sur deux périodes séparées de 9 ans (temps 1 et temps 2). L’analyse de l’impact du génotype de l’ACTN3 comporte deux volets. Le premier volet a pour objectif d’identifier si l’absence de protéine alpha-actinine 3 (génotype 577XX) provoque chez les personnes atteintes de DM1 un niveau de force musculaire global plus faible que chez l’individu des deux autres génotypes, en l’occurrence 577RX et 577RR. Le deuxième volet, quant à lui, a pour objet la comparaison de la perte de force musculaire entre le temps 1 et le temps 2 des trois génotypes. Les patients ont été recrutés dans le registre de la clinique neuromusculaire du Saguenay. Les personnes invitées à participer à cette étude devaient avoir été testées par une analyse génétique confirmant la présence de la maladie (phénotype adulte et tardif) et être âgées de 18 ans ou plus. Un total de 113 participants, soit 42 hommes et 71 femmes, a été en mesure de compléter cette étude longitudinale. Ces derniers ont été évalués à l’aide de 17 tests musculaires. Les résultats du temps 2 ont montré que l’absence de la protéine alpha-actinine 3 chez les hommes atteints de DM1 induisait un niveau de force musculaire global plus faible que chez ceux de génotype 577RX. En effet, le sexe masculin de génotype 577XX a vu sa force décroître plus rapidement au fil des années. Somme toute, si l’encadrement le permet, connaître le profil génotypique associé au gène ACTN3 chez les hommes atteints de DM1 est un élément important à prendre en considération afin de ralentir la progression de la maladie et d’optimiser les stratégies de réadaptation The purpose of this investigation was to analyze the impact of the genotype of ACTN3 on the conservation and evolution of muscle strength in individuals with DM1. This study was a longitudinal study, the patients having been evaluated on two different occasions with 9 years in between (time 1 and time 2). The analysis of the impact of the ACTN3 genotype had two components. The first part aimed at identifying whether the absence of alpha-actinin 3 protein (genotype 577XX) caused a lower level of overall muscular strength in people with DM1 when compared to the other two genotypes, in this case 577RX and 577RR. The second part aimed at comparing the loss of muscle strength between time 1 and time 2 for the three genotypes. Patients were recruited from the Saguenay Neuromuscular Clinic Registry. Those invited to participate in this study had been previously tested by a genetic analysis confirming the presence of the disease (adult and late phenotype) and be 18 years of age or older. A total of 113 participants, 42 men and 71 women, were able to complete this longitudinal study. These were assessed using 17 muscle tests. At time 2, results showed that the absence of alpha-actinin 3 protein in men with DM1 induced a lower level of overall muscle strength than men with 577RX genotype. Indeed, the male genotype 577XX had a more rapid decrease in strength over the years. In light of these results, knowing the genotype profile associated with the ACTN3 gene in men with DM1 is an important element to consider in order to optimize rehabilitation strategies.

APA, Harvard, Vancouver, ISO, and other styles

13

Zhao, Xuan. "THE ROLE OF ALPHA-ACTININ4 (ACTN4) IN TRANSCRIPTIONAL REGULATION IN HUMAN PODOCYTES (HPC) AND IN NEPHROTIC SYNDROME." Case Western Reserve University School of Graduate Studies / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=case1499425861681003.

Full text

APA, Harvard, Vancouver, ISO, and other styles

14

Salgueirosa, Fabiano de Macedo. "Influência do polimorfismo do ACTN3 e ACE I/D em indicadores de performance em atletas profissionais de futebol." reponame:Repositório Institucional da UFPR, 2013. http://hdl.handle.net/1884/32751.

Full text

Abstract:

Orientador : Prof. Dr. Raul Osiecki Tese (doutorado) - Universidade Federal do Paraná, Setor de Ciencias Biológicas, Programa de Pós-Graduaçao em Educaçao Física. Defesa: Curitiba,30/08/2013 Bibliografia: fls. 63-73 Área de concentração: Exercício e esporte Resumo: O objetivo do estudo foi analisar a Influência do polimorfismo do ACTN3 e ACE I/Dem indicadores de performanceem atletas profissionais de futebol. A amostra foi composta de 40 atletas de uma equipe da primeira divisão do futebol brasileiro. A genotipagem dos polimorfismos do ACTN3 e ACE I/D foi realizada por reação em cadeia da polimerase (PCR) a partir do DNA genômico. Foram avaliados também vários indicadores de performance física (velocidade, impulsão vertical, VO2máx, limiar anaeróbio e habilidade de realização de estímulos intensos repetidos). As frequências genotípicas e alélicas foram comparadas com populações controle e de atletas pelo testes do Qui-Quadrado e exato de Fisher e os indicadores de performance foram comparados utilizando Kruskal-Wallis para os genótipos isoladamente ou Mann-Whitney para os modelos dominante e recessivo. Para todas as análises foi adotado p<0,05. As frequências genotípicas e alélicas do ACTN3 (RR=45%, RX=50% e XX=5%; R=70% e X=30%) e do ACE I/D (DD=30%, ID=57,5% e II=12,5%; D=58,8% e I=41,2%) não diferiram significativamente tanto da população controle, quanto de outros grupos de atletas de futebol, com a exceção de um estudo do ACE I/D. Também não foram encontradas diferenças significativas entre os genótipos ACTN3 e ACE I/D para nenhum dos indicadores de performance testados. Concluindo, os dados sugerem que na amostra estudada os genótipos ACTN3 e ACE I/D não foram associados com fenótipos relacionados à performance física. Abstract: The purpose of the present study was to analyze the influence of ACTN3 and ACE I/Dpolymorphisms on performance phenotypes in professional soccer players. The sample consisted of 40 athletes from a first division team of Brazilian soccer. Genotyping ACTN3 and ACE I/D polymorphisms was performed by polymerase chain reaction (PCR) from genomic DNA. We also evaluated several physical performance indicators (speed, vertical jump, VO2max, anaerobic threshold and ability to repeatedly perform intense exercise). The genotypic and allelic frequencies were compared with control populations and athletes by chi-square and exact Fisher tests. The performance indicators were compared using Kruskal-Wallis test for genotypes alone or Mann-Whitney test for dominant and recessive models. For all analyzes was set at p<0.05. The allele and genotype frequencies ACTN3(RR=45%, RX=50% and XX=5%; R=70% and X=30%) and ACE I/D (DD=30%, ID=57,5% e II=12,5%; D=58,8% e I=41,2%) did not differ significantly from both the control population, as other groups of soccer playerswith the exception of one study of ACE I/D. We also found no significant differences between ACTN3 and ACE I/D genotypes for any of the performance indicators tested. In conclusion, the data suggest that in the studied sample ACTN3 and ACE I/D genotypes were not associated with phenotypes related to physical performance.

APA, Harvard, Vancouver, ISO, and other styles

15

Woellner, Glaucio Neves. "Avaliação da associação dos polimorfismos da enzima conversora da angiotensina (ACE) e ACTN3 na relação potência versus resistência." Universidade Tecnológica Federal do Paraná, 2017. http://repositorio.utfpr.edu.br/jspui/handle/1/2730.

Full text

Abstract:

O Atletismo é uma modalidade esportiva que possui provas com demandas energéticas diferentes: potência (P) para saltadores, velocistas e lançadores e resistência (R) para corredores de longas distâncias e marcha atlética. É possível observar diferenças destas características com as possíveis variações da frequência do genótipo DD (deleção), II (inserção) e heterozigoto ID na ACE, bem como da frequência genotípica RR, RX e XX na ACTN3. O presente artigo tem por objetivo correlacionar à recorrência do polimorfismo ACE (Enzima Conversora da Angiotensina) da ACTN3 nos atletas de Atletismo. Estudos anteriores relacionaram estes polimorfismos à capacidade física demandada em outras modalidades. A amostra foi composta por 50 atletas (39 homens e 11 mulheres), com idade de 13 a 38 anos, participantes de equipes de atletismo, que foram então agrupados em função da característica de suas provas (Potência ou Resistência). O estudo apresentou diferenças significativas entre as amostras e o esperado para esta frequência pelo equilíbrio de HardyWeinberg (p=0,0067, para o Polimorfismo da ACE e p=0,0143, para o polimorfismo da ACTN3), no que tange a capacidade dominante da prova e também relacionada ao perfil da população brasileira, grupo controle comparado da literatura (p=0,0223, para o Polimorfismo da ACE e p=0,024, para o polimorfismo da ACTN3). O estudo apresentou uma recorrência de 71,7% somados os genótipos DD e ID, corroborando assim com estudos prévios e 33,3% do genótipo II, conflitando assim com pesquisas anteriores. The Track and Field’s is a sport that has tests with different energy demands: power (P) for jumpers, sprinters and throwers and resistance (R) for runners and race walking long distances. It is possible to observe differences in these characteristics with possible variations of the D allele (deletion) and I (insert). This article recurrence of ACE (Angiotensin Converting Enzyme) in Track and Field’s athletes.Previous studies have linked this polymorphism to the defendant physical capacity in other modes. The sample was composed of 25 athletes (16 men and 10 women) from 13 to 38 years old with participants in a track team, which were then grouped according to the characteristic of this evidence (power or strength). The study showed significant differences between the samples and the expected for this frequency by the Hardy-Weinberg equilibrium (p = 0.0067, for the ACE polymorphism and p = 0.0143 for the ACTN3 polymorphism), regarding the capacity (P = 0.0223, for the ACE Polymorphism and p = 0.024 for the ACTN3 polymorphism). The study presented a recurrence of 71.7% in addition to the DD and ID genotypes, thus corroborating previous studies and 33.3% of genotype II, thus conflicting with previous research.

APA, Harvard, Vancouver, ISO, and other styles

16

Delmonico, Matthew Jon. "Does the alpha-actinin-3 (actn3) polymorphism influence knee extensor peak power response to strength training in older adults?" College Park, Md. : University of Maryland, 2005. http://hdl.handle.net/1903/3057.

Full text

Abstract:

Thesis (Ph. D.) -- University of Maryland, College Park, 2005. Thesis research directed by: Kinesiology. Title from t.p. of PDF. Includes bibliographical references. Published by UMI Dissertation Services, Ann Arbor, Mich. Also available in paper.

APA, Harvard, Vancouver, ISO, and other styles

17

Pasqua, Leonardo Alves. "Associação entre o polimorfismo de nucleotídeo único no gene ACTN3, variáveis fisiológicas e parâmetros neuromusculares relacionados à aptidão aeróbia." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/39/39134/tde-10062013-090612/.

Full text

Abstract:

O objetivo do presente estudo foi investigar a existência de associação entre os diferentes genótipos do polimorfismo R577X do gene ACTN3 e variáveis fisiológicas e neuromusculares associadas à aptidão aeróbia e ao desempenho em provas de longa duração. Cento e cinquenta indivíduos fisicamente ativos foram submetidos aos seguintes testes: a) teste incremental máximo para determinação do consumo máximo de oxigênio, velocidade de pico, limiar ventilatório (LV) e ponto de compensação respiratória (PCR); b) dois testes de cargas constantes nas velocidades de 10 km.h-1 e 12 km.h-1 para determinação da economia de corrida; c) teste de uma repetição máxima no exercício leg press para determinação da força máxima de membros inferiores; d) teste de salto vertical para determinação da potência máxima de membros inferiores e; e) genotipagem para determinação do genótipo do gene ACTN3. Os principais resultados foram a maior representação do genótipo XX entre os indivíduos com maiores velocidades associadas ao LV e ao PCR. Além disso, entre os indivíduos mais econômicos, foi observada uma maior representação de pelo menos uma cópia do alelo X (genótipos RX e XX). Esses resultados sugerem que o genótipo XX do gene ACTN3 parece ser favorável às variáveis fisiológicas associadas à aptidão aeróbia, sobretudo aquelas determinadas em intensidades submáximas The aim of the present study was to investigate the relationship among the genotypes of the ACTN3 gene and physiological and neuromuscular parameters related to aerobic fitness and endurance performance. One hundred and fifty male physically active subjects performed the following tests: a) a maximal incremental test to determine maximal oxygen consumption, peak velocity, ventilatory threshold and respiratory compensation point; b) two constant speed tests at 10 km.h-1 and 12 km.h-1 to determine running economy; c) one repetition maximum in the leg press to determine the maximal dynamic strength of the lower limbs; d) vertical jump test to determine the maximum power of the lower limbs and; e) genotyping for the ACTN3 gene polymorphism. Our main results were a higher frequency of the XX genotypes among the individuals with the highest speeds associated to ventilatory threshold and to the respiratory compensation point. It was observed a higher frequency of at least one copy of the X allele (RX and XX genotypes) among the more economical individuals. These results suggest that the XX genotype of the ACTN3 gene seems to be associated with physiological variables related with the aerobic fitness, mainly those determined in submaximal intensities

APA, Harvard, Vancouver, ISO, and other styles

18

Konovalenko, Zhanna. "Gene association of a-B-crystallin with R577X polymorphism for ACTN3 and nociception in subjects with TMD-related myalgia." Master's thesis, Temple University Libraries, 2016. http://cdm16002.contentdm.oclc.org/cdm/ref/collection/p245801coll10/id/399141.

Full text

Abstract:

Oral Biology M.S. Masseter muscle is one of the major muscles of mastication, and is comprised of actin and myosin myofibrils organized into sarcomeric contractile units. Structurally, sarcomeres are repeating portions of myofibrils between neighboring Z-lines (a.k.a. Z-disc, Z-band). The Z-line or Z-disc is composed of non-contractile proteins that provide mechanical stability to the sarcomere. One of the proteins of Z-disc is alpha-B-crystallin, a protein product of the gene CRYAB. Together with several other proteins of the Z-disc, CRYAB gene has been found to be up-regulated in Actn3 knock-out mice. In addition, CRYAB is suspected to be a pain mediator gene, having similar structure and function to CRYAA (alpha,A-crystallin) identified as one of the candidate genes from the Pain Research Panel, previously investigated in the Orofacial Pain: Prospective Evaluation and Risk Assessment (OPPERA) Study. Finally, in a microarray of global gene expression CRYAB was increased in subjects with facial asymmetry. We have examined CRYAB expression in masseter muscle of 64 orthognathic surgery patients to determine associations with skeletal malocclusions. Salivary DNA was genotyped for a single nucleotide polymorphism (SNP) for ACTN3 (rs1815739) and masseter muscle RNA isolated from an orthognathic surgery patient population. These genotyping and expression data have been used to identify differences in CRYAB expression in sub-groups of our patient population with Class II and III, normal, open and deep bite malocclusions who are null for ACTN3. In addition, we evaluated expression levels of CRYAB in patients with TMD-related myalgia. We found that relative quantities of CRYAB expression differed very significantly between sexes (p=0.005). ANOVA comparison between all subjects with and without TMD-myalgia indicated that males with TMD-myalgia had significantly greater (p<0.02) expression than other groups. An unpaired t-test showed that with TMD-related myalgia, CRYAB expression was significantly higher (p=0.03) in males than in females. ANOVA comparison between sexes with Class II and Class III malocclusions showed greater expression of CRYAB (p=0.005) in males with Class II. Expression was likewise greater in males with Class III malocclusion than in females with Class III (p<0.01). Among different age groups, subjects 25 years of age or younger had significantly (p value=0.025) increased expression of CRYAB gene. There were no significant differences for genotypes or facial asymmetry. Temple University--Theses

APA, Harvard, Vancouver, ISO, and other styles

19

Pranculis, Aidas. "Genetinių veiksnių, lemiančių organizmo fizinį pajėgumą, analizė." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2014. http://vddb.library.lt/obj/LT-eLABa-0001:E.02~2010~D_20140625_194309-16617.

Full text

Abstract:

Genetinių veiksnių, lemiančių žmogaus fizinį pajėgumą, analizė Tapimas didelio meistriškumo sportininku yra sudėtingas procesas, kuriam įtakos turi ne tik aplinkos ar psichologiniai veiksniai, tačiau ir genetiškai nulemtos fizinio pajėgumo savybės. Fizinis pajėgumas- sudėtinė kiekybinė paveldima savybė, kurios fenotipus įtakoja daug genų bei aplinkos veiksnių. Daugeliu atvejų morfologinės ir funkcinės sportininko savybės yra siejamos su vieno nukleotido polimorfizmais tam tikrame gene. Skirtingi to paties geno aleliai gali turėti skirtingą poveikį asmens fiziniam vystymuisi ir darbingumui. Maksimalus deguonies suvartojimas (MDS) apibūdina žmogaus fizinį pajėgumą tai yra didžiausią žmogaus kūno gebėjimą transportuoti ir panaudoti deguonį didėjant krūviui treniruočių metu. MDS yra lemiamas daugelio fiziologinių veiksnių vieni svarbiausių iš jų yra širdies ir kraujagyslių, kvepavimo sistemų veikla bei ją įtakojantys genetiniai veiksniai. Šio darbo tikslas- parinkti ir įvertinti AGTR1, AGTR2, AGT, AMPD1, MB, ACTN3 genų žymenų įtaką žmogaus fiziniam pajėgumui remiantis Lietuvos didelio meistriškumo sportininkų ir kontrolinės grupės analize. Buvo pasirinkti AGTR1 c.1166A>C, AGTR2 c.*501A>C, AGT c.620C>T, AMPD1 c.34C>T, MB c.174G>A, ACTN3 c.1747C>T polimorfizmai. Darbe ištirta kontrolinė grupė, sudaryta iš 250 gimininiais ryšiais nesusijusių asmenų bei didelio meistriškumo Lietuvos sportininkų grupės (149 sportininkai) sudarytos pagal sportininkų kvalifikaciją ir jų propaguojamą... [toliau žr. visą tekstą] The analysis of the genetic factors that influence human physical capacity Although the making of an elite athlete is complex and includes a range of environmental and behavioral factors, genetic predisposition to athleticism is also important. Physical capacity is a typical quantitative complex inheritable, the phenotypes of which are influenced by multiple genes as well as environmental factors. In most of the cases the morphological and functional parameters of an athlete are associated with single nucleotide polymorphisms of a particular gene. Different alleles of the same gene can have distinct effect on a person’s physical development and working capacity. VO2 max (also maximal oxygen consumption, aerobic capacity) is the maximum capacity of an individual's body to transport and utilize oxygen during incremental exercise, which reflects the physical fitness of the individual. There are many physiological factors that combine to determine VO2max among the most important of which are the functions of the cardiovascular, pulmonary systems and the underlying genetic factors. The aim of this study was to choose and asses the influence of the AGT, AGTR1, AGTR2, AMPD and ACTN3 genetic variants on human physical performance by the analysis of Lithuanian elite athletes and the control group. The AGTR1 c.1166A>C, AGTR2 c.*501A>C, AGT c.620C>T, AMPD1 c.34C>T, MB c.174G>A, ACTN3 c.1747C>T polymorphisms were chosen for the research. The study involved the analysis of the elite... [to full text]

APA, Harvard, Vancouver, ISO, and other styles

20

Lornage, Xavière. "Identification and functional characterization of novel genes implicated in congenital myopathies." Thesis, Strasbourg, 2019. http://www.theses.fr/2019STRAJ067.

Full text

Abstract:

Les myopathies congénitales sont des maladies génétiques sévères caractérisées par une faiblesse musculaire très invalidante de début infantile. Afin d’identifier de nouvelles causes génétiques, nous avons séquencé les exomes de patients myopathes qui ne disposaient pas de diagnostic moléculaire et leur analyse a mis en évidence deux nouveaux gènes de myopathie. MYPN et ACTN2 codent pour deux protéines structurales du sarcomères appelées myopalladine et alphaactinine-2. Afin d’étudier l’impact des mutations sur la fonction de la protéine et sur la physiologie du muscle, des analyses moléculaires et fonctionnelles ont été réalisées en modèles cellulaires et animaux. Les mutations dans MYPN induisent une perte de la protéine, et dans les muscles de souris, l’alpha-actinine-2 mutée conduit à une faiblesse musculaire et génère des défauts structuraux similaires à ceux retrouvés chez les patients. Ces résultats ont un impact direct sur la prise en charge des patients et sur le conseil génétique, sur la compréhension de voies de signalisation fondamentales pour la physiologie musculaire, et mettent en évidence de nouvelles cibles thérapeutiques Congenital myopathies are severe genetic muscle diseases characterized by a disabling early-onset muscle weakness. In order to identify new genetic causes, we sequenced the exomes of molecularly undiagnosed congenital myopathy patients, and their analysis highlighted two novel myopathy genes. MYPN and ACTN2 encode two structural sarcomeric proteins called myopalladin and alphaactinin-2. To evaluate the impact of the mutations on the protein function and on muscle physiology, molecular and functional analyses were performed in cell and animal models. The MYPN mutations resulted in loss of myopalladin expression, and in mouse muscles, mutated alpha-actinin-2 led to muscle weakness and structural defects similar to those observed in the patient muscles. These results have a direct impact on the disease management of the patients and on genetic counselling, provide a better understanding of the signaling pathways required for muscle physiology, and highlight novel therapeutic targets

APA, Harvard, Vancouver, ISO, and other styles

21

McCauley, Tracey. "Are ACE I/D and ACTN3 R577X polymorphisms associated with the muscle function of young and older men, and frequent fallers?" Thesis, Loughborough University, 2009. https://dspace.lboro.ac.uk/2134/12930.

Full text

Abstract:

Angiotensin Converting Enzyme (ACE) IID, and a actinin 3 (AC1N3) R577X polymorphisms have been linked to the strength and power performance of elite athletes and suggested to influence skeletal muscle function in the general popUlation. This research investigated the association of these two candidate gene polymorphisms with the muscle function of young and older men, and the distribution of these genotypes in frequent fallers compared to controls. Muscle function measurements of young and older men included isometric strength, absolute and relative isokinetic strength at high velocity (ratio of torque at 2400 ·s"; torque at 30°·s") and the time course of an evoked twitch. Additionally body composition was measured by skinfold thickness (young men) and DXA scanning (old men) to estimate fat-free mass, an index of muscularity, and fat mass. ACE and AC1N3 genotypes were determined from whole blood samples using polymerase chain reaction, and serum ACE activity using spectrophotometry. The gemtypes of frequent fallers referred to a Falls Clinic were compared to a control group of healthy men. ACE genotype was not associated with any measure of muscle function, including the time course of an evoked twitch or absolute and relative high velocity torque, or body composition in these populations (ANOVA, 0.12<P<0.97). Serum ACE activity appeared to be weakly associated with knee extensor (R = 0.19, P = 0.07) and elbow flexor (R = 0.20, P = 0.06) isometric strength in older men, and was negatively correlated with the relative torque at high velocity (R = -0.23, P = 0.03). AC1N3 genotype was associated with fat mass in older men (P = 0.04), but was not associated with any measure of muscle function or muscularity (KruskalWaIIis, 0.26<P<0.95). Finally there was no apparent difference in the distribution of ACE IID (r: = 0.54, P = 0.77) and AC1N3 RIX (r: = 0.76, P = 0.68) genotypes between frequent fallers and controls. Any influence of these individual polymorphisms seems unlikely to be of sufficient magnitude to produce genotype related differences in muscle function in young or older free living UK Caucasian men. Serum ACE activity may have a small association with the isometric and dynamic strength of older men. However, AC1N3 genotype was associated with increased fat mass in XX individuals, that suggests this polymorphism may have an association with the accumulation of body fat over the life span of older men.

APA, Harvard, Vancouver, ISO, and other styles

22

Hartupee, Justin Curtis. "Regulation of mRNA Stability in Chemokine Gene Expression." Case Western Reserve University School of Graduate Studies / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=case1212426414.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Arejano, Gabrielle Gaspar. "Associações dos polimorfismos genéticos ECA I/D, ACTN3 R577X e PON1 C(-107)T de mulheres diabéticas e/ou hipertensas e controles." Universidade Federal de Pelotas, 2017. http://guaiaca.ufpel.edu.br:8080/handle/prefix/3946.

Full text

Abstract:

Submitted by Aline Batista (alinehb.ufpel@gmail.com) on 2018-05-24T13:05:15Z No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5) Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2018-05-24T13:56:54Z (GMT) No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5) Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2018-05-24T13:57:01Z (GMT) No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5) Made available in DSpace on 2018-05-24T13:57:01Z (GMT). No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertacao_Gabrielle_Gastar.pdf: 1814034 bytes, checksum: 214de94beffb5c3d14f679611239db4b (MD5) Previous issue date: 2017-08-23 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES OBJETIVO: Estudar as associações entre os polimorfismos genéticos ECA I/D, ACTN3 R577X e PON1 C(-107)T com diabetes e hipertensão em pacientes atendidos pelo Sistema Único de Saúde. MÉTODOS: Foram coletados dados bioquímicos dos prontuários dos pacientes crônicos de três Unidades Básicas de Saúde da Família localizadas na cidade de Rio Grande. Foram aplicados questionários de consumo alimentar, nível de atividade física e socioeconômico. Foi realizada a avaliação nutricional dos pacientes e, em seguida, a coleta de saliva para a extração do DNA genômico para análise dos polimorfismos genéticos. Os polimorfismos foram analisados por PCR simples, multiplex e por polimorfismo de tamanho de fragmento de restrição. RESULTADOS: O grupo caso obteve maiores valores de peso, IMC, circunferência da cintura, percentual de gordura, pressão arterial, colesterol total, triglicerídeos e glicemia em comparação ao grupo controle. Foram encontradas associações do genótipo XX do polimorfismo R577X da ACTN3 com valores mais elevados de glicemia e triglicerídeos. O genótipo TT do polimorfismo C(-107)T da PON1 também obteve níveis maiores de triglicerídeos comparado aos outros 2 genótipos. CONCLUSÃO: O genótipo XX da ACTN3 foi fortemente relacionado com níveis baixos de HDL e altos valores de triglicerídeos, colesterol total e glicemia. Ainda encontramos altos valores de triglicerídeos e LDL no genótipo TT e menores níveis de colesterol total ligados ao genótipo CC da PON1. OBJECTIVE: To study associations between polymorphisms in the angiotensin converting enzyme (ACE I/D), actinin 3 (ACTN3 R577X) and paraoxonase 1 (PON1 C-(107)T with chronic diseases (diabetes and hypertension) in patients attended by Sistema Único de Saúde (SUS). METHODS: Biochemical data were collected from the charts in the Basic Health Units of the Family located in the same region of the city of Rio Grande. Charts about food consumption, physical activity level and socioeconomic were applied. Nutritional data were evaluated, genomic DNA was extracted from collected saliva samples and used for analysis of genetic polymorphism. RESULTS: The case group had higher values of weight, BMI, waist circumference, body fat percentage, blood pressure, cholesterol, triglycerides and blood glucose in comparison with control group. Associations were found of XX genotype of the polymorphism R577X ACTN3 with higher values of blood glucose, and triglycerides levels. The TT genotype of the C(-107)T PON1 also had higher levels of triglycerides compared to other 2 genotypes. CONCLUSION: The genotype XX of ACTN3 was strong related with low HDL levels and high triglycerides, total cholesterol and glucose levels. Still, we realized high triglycerides and LDL leves in TT genotype of PON1 and lower leves of total cholesterol linked to CC genotype of PON1.

APA, Harvard, Vancouver, ISO, and other styles

24

Albuquerque, Neto Severino Leão de. "Associação dos polimorfismos I/D do gene da ECA e R557X do gene da ACTN3 aos indicadores de desempenho em jovens atletas da natação brasileira." Universidade Católica de Brasília, 2018. https://bdtd.ucb.br:8443/jspui/handle/tede/2442.

Full text

Abstract:

Submitted by Sara Ribeiro (sara.ribeiro@ucb.br) on 2018-08-08T17:45:39Z No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5) Approved for entry into archive by Sara Ribeiro (sara.ribeiro@ucb.br) on 2018-08-08T17:46:25Z (GMT) No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5) Made available in DSpace on 2018-08-08T17:46:25Z (GMT). No. of bitstreams: 1 SeverinoLeãodeAlbuquerqueNetoTese2018.pdf: 2484170 bytes, checksum: b4db26e2e2354477363089d9c62b4b72 (MD5) Previous issue date: 2018-05-03 The search for better sports performance has encouraged studies on the interaction between environmental and genetic factors. In this perspective, while environmental factors stimulate morphofunctional adaptations, genetic polymorphisms modulate the genes responsible for these adaptations. Therefore, the identification of the candidate genes and their respective polymorphisms with potential to influence the phenotypes related to this performance have been the target of the researchers of the area. Among the promising polymorphisms are the I/D of the angiotensin converting enzyme (ACE) gene and the α-actinin-3 (ACTN3) gene R577X. In the field of sports genetics, swimming has been studied, but research on the younger athletes is rare. The objective of this study was to analyze the association between ACE and ACTN3 polymorphisms in sports performance indicators in 120 brazilian swimmers (75 Boys and 45 Girls), aged 15 to 17 years (16.76 ± 0.6 years ), affiliated to the Brazilian Confederation of Aquatic Sports. 102 non-athletes of the same age group (16.51 ± 0.95 years) residing in the Federal District were part of the control group (56 Boys and 46 Girls). These were subdivided by official swimming tests (short: ≤200m vs long: ≥400m), related to the phenotypes of sports performance (strength vs. power) and by the competitive level (elite vs. sub-elite). The elite status (international experiences) and the technical index (TI) were adopted as indicators of performance. It was also evaluated the total genothype score (TGS) associated to the strength / power phenotypes. The technique of scraping buccal mucosa epithelial cells with the aid of a specific swab was used to collect the samples. In the athletes was collected during the XXIV Brazilian Junior Swimming Championship and among the students, in the intervals of the Physical Education classes. The genotyping of the polymorphisms was performed through the polymerase chain reaction technique obeying standardized and scientifically validated protocols. All the volunteers signed the agreement with prior consent of those responsible. Chi-square and Mann-Whitney tests were used when the variables were not normally distributed. Pearson's correlation and t-test for independent samples were used for the parametric data. The groups (athletes and non-athletes) demonstrated Hardy-Weinberg equilibrium for the genotypic and allelic distribution of polymorphisms. Sub-elite athletes (≤200m and ≥ 400m) presented allelic and genotype frequencies in both polymorphisms very close to those observed for the control group. The elite group of athletes was formed by specialists in short competitions (≤200m). Significant primacy of the DD genotype of ACE was observed for elite athletes. The D allele and DD genotype were also predominant among athletes of the same phenotypic (strength/power) group identified in the upper quartile (Q3) of TI, with significant differences especially in favor of elite athletes. Analysis of the ACTN3 polymorphism revealed that the R allele was predominant in all groups, except for the elite group, which had a frequency of the heterozygote RX genotype significantly higher. The best TI’s were verified among the athletes (≤200m) genotyped for RX and RR, with supremacy for the homozygote among elite athletes. In the joint evaluation of the two polymorphisms, the elite group presented significant genotypic supremacy of DD + RX addition compared to the other groups that presented higher occurrence of DD + RR homozygotes. The TGS analysis showed that athletes with better genotype profiles (score ≥75) also had the best TI’s. The results of the study suggest that the elite status and the best TI’s verified among juvenile athletes were influenced positively by the genotype associations typically expected. A busca pelo melhor desempenho esportivo tem incentivado estudos sobre a interação entre os fatores ambientais e genéticos. Nesta perspectiva, enquanto os fatores ambientais estimulam as adaptações morfofuncionais os polimorfismos genéticos modulam os genes responsáveis por estas adaptações. Por isso, a identificação dos genes candidatos e seus respectivos polimorfismos com potencial de influenciar os fenótipos relacionados a este desempenho têm sido alvo dos pesquisadores da área. Dentre os polimorfismos promissores destacam-se o I/D do gene da enzima conversora da angiotensina (ECA) e o R577X do gene da α-actinina-3 (ACTN3). Na área da genética do esporte a natação tem sido estudada, mas são raras as pesquisas dedicadas aos atletas mais jovens, notadamente na população brasileira. O objetivo do estudo foi analisar a associação entre os polimorfismos da ECA e da ACTN3 aos indicadores de desempenho esportivo em 120 atletas da natação brasileira (75 Rapazes e 45 Moças), na faixa etária dos 15 aos 17 anos (16,76 ± 0,6 anos), filiados à Confederação Brasileira de Desportos Aquáticos (6,46 ± 2,13 anos). 102 jovens escolares (56 Rapazes e 46 Moças) não-atletas da mesma faixa etária (16,51 ± 0,95 anos) residentes no Distrito Federal fizeram parte do grupo controle. Estes foram subdivididos pelas provas oficiais da natação (curtas: ≤200m vs longas: ≥400m), relacionadas tipicamente aos fenótipos opostos do desempenho atlético (respectivamente: força/potência vs resistência) e pelo nível competitivo (elite vs sub-elite). O status de elite (experiências internacionais) e o índice técnico (IT) foram adotados como indicadores de desempenho. Foi avaliado também o score total dos genótipos (TGS) associados aos fenótipos da força/potência. O material genético dos atletas foi coletado durante o XXIV Campeonato Brasileiro Juvenil de Natação e entre os escolares, nos intervalos das aulas de Educação Física. A técnica de raspagem das células epiteliais da mucosa bucal com o auxílio de swab específico foi utilizada para a coleta das amostras. A genotipagem dos polimorfismos foi realizada através da técnica de reação em cadeia da polimerase obedecendo protocolos padronizados e cientificamente validados. Todos os voluntários assinaram o termo de assentimento com prévia anuência dos responsáveis. Os testes do Qui-Quadrado e Mann-Whitney foram utilizados quando as variáveis não apresentavam distribuição normal. A correlação de Pearson e o teste t para amostras independentes foram utilizados para os dados paramétricos. Os grupos (atletas e não-atletas) demonstraram equilíbrio Hardy-Weinberg para a distribuição genotípica e alélica dos polimorfismos. Os atletas sub-elite (≤200m e ≥400m) apresentaram frequências alélicas e genotípicas em ambos os polimorfismos muito próximas às verificadas para o grupo controle. O grupo de atletas de elite foi formado por especialistas em provas curtas (≤200m). Observou-se supremacia significativa do genótipo DD da ECA para os atletas de elite. O alelo D e o genótipo DD foram predominantes também entre os atletas do mesmo grupo fenotípico (força/potência) identificados no quartil superior (Q3) do IT, com diferenças significativas especialmente em prol dos atletas de elite. A análise do polimorfismo da ACTN3 revelou que o alelo R foi predominante em todos os grupos, exceto para o grupo de elite, os quais apresentaram frequência do genótipo heterozigoto RX significativamente superior. Os melhores IT foram verificados entre os atletas (≤200m) genotipados para RX e RR, com supremacia para o homozigoto entre os atletas de elite. Na avaliação conjunta dos dois polimorfismos o grupo de elite apresentou significativa supremacia genotípica da adição DD+RX frente aos demais grupos que apresentaram maior ocorrência dos homozigotos DD+RR. A análise do TGS demonstrou que os atletas com melhores perfis genofenotípicos (score ≥75) apresentaram também os melhores IT. Os resultados do estudo sugerem que o status de elite e os melhores IT verificados entre atletas juvenis sofreram influência positiva das associações genofenotípicas tipicamente esperada.

APA, Harvard, Vancouver, ISO, and other styles

25

Coelho, Daniel Barbosa. "Determinação da frequência genotípica do ACTN3 e da sua relação com o desempenho físico, respostas hormonais e indicadores do dano muscular em jogadores de futebol." Universidade Federal de Minas Gerais, 2011. http://hdl.handle.net/1843/KMCG-8LVN8P.

Full text

Abstract:

The objective was to determine the frequency of ACTN3 in soccer players of different categories and their relationship to performance, hormonal responses and indicators of muscle damage after the game. We evaluated 367 male players under- 15 category, sub-17, U-20 and professional and amateur players (N. 14) and a control group (N. 100). All subjects were genotyped for the polymorphism ACTN3- RR, RX and XX. Were applied tests of aerobic capacity, squat jump (SJ), ountermovement jump (CMJ) and sprint test of 30 m (V30) subdivided into 10 m (V10) and 20 m (V20). Blood collections were performed in the pre, post, 2 and 4 h after the match and were determined the concentrations of interleukin-6 (IL-6), cortisol, testosterone, ratio testosterone/cortisol (T/C), creatinekinase (CK), muscle alphaactin and between the groups RR/RX and XX. The frequency of ACTN3 in players was not different from control group. However it was noted that the group of professional players had a lower frequency of XX and an increased frequency RX (p<0.05) compared to younger players. Concentrations of CK were higher after the game for both groupsand remained high until the time 4 h (p <0.05) but not different. We identified increased IL-6 post game for the XX group (p <0.05) returning to normal at the time 2 h. There was an increase of testosterone after the game in the group RR/RX that lasted until 4 am (p<0.05). Being that this same pattern was not observed for group XX. In the moments Post, 2 and 4 h testosterone concentrations were higher in RR/RX compared to the group XX. The group RR/RX showed increased levels of cortisol Post the game. In both groups, cortisol concentrations were lower at times 2 and 4 h compared with the pre (p<0.05), indicating a decrease of concentration. We conclude that the frequency of genotype XX and RX decreasesand increases respectively in older categories in football, indicating a natural selection of individuals of character stronger and mixed in this sport. The RR genotype and allele R is present in more soccer playerswith superior physical performance in tests of strength and speed, while the reverse was not proved in relation to resistance. XX individuals have higher responses of IL-6 to a football game and individuals RR/RX have higher values of markers of CK Postgame. O objetivo foi determinar a frequência do ACTN3 em jogadores de futebol de diferentes categorias e a sua relação com o desempenho, respostas hormonais e de indicadores de dano muscular pós jogo. Foram avaliados 367 jogadores masculinos das categorias sub-15, sub-17, sub-20 e profissionais, e jogadores amadores (N. 14) e um grupo controle (N. 100). Todos os indivíduos foram genotipados para o polimorfismo ACTN3- RR, RX e XX. Foram realizados testes de capacidade aeróbia, salto agachado (SJ), com contra-movimento (CMJ) e teste de velocidade de 30m (V30) subdivido em 10m (V10) e 20 (V20). Foram realizadas coletas sanguíneas nos momentos pré, pós, 2 e 4h de jogo e foram determinadas as concentrações de Interleucina-6 (IL-6), Cortisol, testosterona, relação testosterona/cortisol (T/C), creatina-quinase (CK) e alfa-actina muscular entre os grupos RR/RX e XX. A frequência do ACTN3 em jogadores não foi diferente do grupo controle. No entanto observou-se que o grupo de jogadores profissionais apresentou uma menor frequência do XX e aumento do RX (p<0,05) em relação aos jogadores mais jovens. Não foi encontrada relação da frequência genotípica com o desempenho em testes físicos. As concentrações de CK pós jogo foram maiores para ambos os grupo e se mantiveram altas até o momento 4 h (p<0,05), mas não diferiram entre si. Identificou-se aumento da IL-6 pós jogo para o grupo XX (p<0,05) retornando aos valores normais no momento 2 h. Houve aumento da testosterona pós jogo no grupo RR/RX que se manteve até 4h (p<0,05). Sendo que esse mesmo comportamento não foi observado para o grupo XX. Nos momentos pós, 2 e 4 h as concentrações de testosterona foram maiores no grupo RR/RX em comparação ao grupo XX. O grupo RR/RX apresentou aumento das concentrações de cortisol pós jogo. Em ambos os grupos a concentração de cortisol foi menor nos momentos 2 e 4 h em comparação com a fase pré (p<0,05), indicando uma diminuição desta concentração. Conclui-se que a frequência do genótipo XX e o RX diminui e aumenta respectivamente em categorias mais velhas no futebol, indicando uma seleção natural de indivíduos de caráter mais forte e misto neste esporte. Indivíduos XX, apresentam maiores respostas de IL-6 a um jogo de futebol e indivíduos RR/RX apresentam maiores valores de marcadores de CK pós jogo.

APA, Harvard, Vancouver, ISO, and other styles

26

Lima, Leonardo Coelho Rabello de [UNESP]. "Relação entre economia de corrida e força muscular: análise pelo modelo de dano muscular induzido pela corrida em declive." Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/151839.

Full text

Abstract:

Submitted by LEONARDO COELHO RABELLO DE LIMA null (leonardocrlima@gmail.com) on 2017-10-04T00:12:09Z No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5) Approved for entry into archive by Monique Sasaki (sayumi_sasaki@hotmail.com) on 2017-10-04T17:00:41Z (GMT) No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5) Made available in DSpace on 2017-10-04T17:00:41Z (GMT). No. of bitstreams: 1 Tese Leonardo Lima.pdf: 5043553 bytes, checksum: bb0d2f3885d5719b2bd99d08ef4a0617 (MD5) Previous issue date: 2017-08-07 Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Introdução: Alguns estudos longitudinais têm mostrado que a força pode influenciar a economia de corrida (EC). Entretanto, outros modelos [p.ex., dano muscular (DM) induzido por corridas em declive (CrED)] mostram que a magnitude e a cinética de recuperação da EC e da força máxima medida em exercícios de cadeia cinética aberta [pico de torque isométrico de extensão do joelho (PTI)] podem ser diferentes. Fatores como o tipo de exercício usado para medir a força e a forma pela qual a força se manifesta (máxima e explosiva), podem explicar, pelo menos em parte, estes dados antagônicos. O objetivo geral deste estudo foi utilizar o modelo de DM induzido pela CrED para analisar a relação entre força máxima e explosiva e a EC. Método: Para isso, foram empregadas três intervenções para modular o DM induzido pela CrED e verificar seus efeitos sobre a força e a EC. Participaram do estudo 85 sujeitos ativos (22,3 ± 2,4 anos, 78 ± 9,4 kg, 176,9 ± 5 cm) que foram aleatoriamente separados em grupo controle (CON), placebo (PLA), suplementação (SUP), isométrico (ISO) e combinado (COMB). CON foi dividido em indivíduos com presença e ausência da α-actinina-3, resultante de polimorfismo do gene ACTN3. Todos os grupos realizaram uma CrED (-15%) por 30 min a 70% VO2max. SUP ingeriu um suplemento rico em compostos flavonoides antes e após a CrED, PLA ingeriu um placebo nos mesmos períodos, ISO realizou 10 contrações isométricas máximas (CIM) dois dias antes da CrED e COMB ingeriu o suplemento e realizou 10 CIM antes da CrED. Foram avaliados marcadores indiretos de DM (força, dor, amplitude de movimento e circunferência da coxa, e atividade sérica de CK) e EC antes e imediatamente, 24, 48, 72 e 96 horas após a CrED. Alterações ao longo do tempo e entre grupos foram analisadas por meio de ANOVA de dois caminhos com post-hoc de Bonferroni. Resultados: Os resultados obtidos demonstraram comprometimento significante da EC após a CrED, assim como alterações significantes em marcadores de DM. Foi identificado um efeito de aceleração da recuperação nas alterações no DM e EC para os grupos SUP e COMB (que apresentaram retorno do VO2 e PTI a níveis basais no dia seguinte e dois dias após a CrED, respectivamente) em relação ao grupo CON. Os grupos que consumiram o suco antioxidante também apresentaram atenuação significante da dor muscular após a CrED. Entretanto, a diferença de cinética de recuperação entre força e EC se manteve mesmo frente aos tratamentos. O grupo ISO apresentou aceleração da recuperação do PTI, mas não da EC, assim como atenuação da dor muscular em relação ao grupo CON. Alterações na altura de saltos foram significantes, sendo que os valores retornaram a níveis basais antes dos valores de PTI. Em relação aos polimorfismos do gene ACTN3, não houve influência do genótipo nas alterações na EC. Entretanto, como esperado, houve maior perda de força para indivíduos RR (que sintetizam a α-actinina-3). Conclusão: Em conjunto, os resultados obtidos sugerem que há, sim, uma relação entre aspectos neuromusculares e a EC. Entretanto, outros fatores, que não a capacidade de produção de força isoladamente, parecem contribuir para essa relação. Ademais, as estratégias de atenuação do DM investigadas no presente estudo parecem ser eficazes na aceleração da recuperação da EC e da força muscular e o polimorfismo do gene ACTN3 parece ser um dos fatores que explicam a susceptibilidade ao DM. Introduction: Longitudinal studies have been showing that strength production capacity might influence running economy (RE). However, other study models [e.g., downhill running (DhR) induced muscle damage (MD)] show different magnitudes of change and recovery kinetics between strength measured with open kinetic chain exercises [knee extension isometric peak torque (IPT)] and RE might differ. Factors such as the type of exercised used to measures strength and its form of manifestation (maximal or explosive) might, at least in part, explain these differences. The aim of the present study was to analyze the association between strength production capacity and RE using an DhR induced MD model. Methods: To do so, three different prophylactic strategies were adopted to modulate MD induced by DhR and also analyze their effects on strength production capacity and RE. Eighty five active subjects (22.3 ± 2.4 years, 78 ± 9.4 kg, 176.9 ± 5 cm) participated in the study and were randomly allocated to control (CON), placebo (PLA), supplementation (SUP), isometric (ISO), and combined (COMB) groups. Participants in CON were separated based on their ACTN3 polymorphisms. All groups ran downhill (-15%) for 30 min at 70%VO2max. SUP ingested a flavonoid-rich supplement before and following DhR, PLA ingested an isocaloric placebo at the same time points, ISO performed 10 maximal isometric contractinons (MIC) two days prior to the DhR, and COMB ingested the supplement and performed the MIC before DhR. MD symptoms (strength, soreness, knee joint range of motion, thigh circumference, and serum CK activity) and RE were assessed before, immediately after, and 1-4 days following DhR. Changes over time and between groups were analyzed with two-way ANOVA followed by Bonferroni’s post hoc tests. Results: Results showed that RE was significantly compromised following DhR and MD markers were also affected. Faster recovery of RE and MD markers was identified for the SUP and COMB groups (which reached full recovery of VO2 and IPT 1 and 3 days following the DhR, respectively), as compared to CON. Both groups that consumed the antioxidant supplement also presented significant attenuation of muscle soreness following DhR. However, the difference in the recovery kinetics of strength and RE was maintained with this treatment. ISO presented faster recovery of IPT, but not RE, and attenuation and faster recovery of soreness, as compared to CON. Significant changes in jump height were found for all groups, with faster recovery when compared to IPT. No influence of the ACTN3 gene polymorphism was found for changes in RE. However, as expected, RR individuals presented significantly greater strength loss following DhR. Conclusion: When put together, our results suggest that there is, indeed, an association between neuromuscular aspects and RE. However, factors other than strength production per se seem to contribute to this association. Moreover, the prevention/recovery strategies investigated in the present study seem to be effective to promote faster recovery of RE and strength following DhR. Also, ACTN3 gene polymorphism seems to be one of the factors contributing to susceptibility to MD, but not changes in RE. FAPESP: 2013/23585-4

APA, Harvard, Vancouver, ISO, and other styles

27

Baltušnikas, Juozas. "α-aktinino-3 deficito įtaka greitumo, raumenų galingumo ir jėgos kaitai, lavinant greitumą". Master's thesis, Lithuanian Academic Libraries Network (LABT), 2010. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2010~D_20100526_144309-88692.

Full text

Abstract:

Greitumas – vienas iš svarbiausių judamųjų gebėjimų. Jis įvairiose sporto šakose pasireiškia skirtingomis formomis. Greitumo pratybos, tai tokios pratybos, kurios nemažina maksimalaus raumens susitraukimo ir atsipalaidavimo greičio, o jį padidina. Yra žinoma, kad jėgos pratybos yra kenksmingos greitumui. Mūsų nuomone, didžiausia problema sporto moksle - kaip padidinti jėgą nesumažinant raumens susitraukimo ir atsipalaidavimo greičio. Taip pat labai aktualu sužinoti, kaip skirtingų genų variantų žmonės geba didinti greitumą ir jo pasireiškimo formas. Šiuo metu pasirodė daug straipsnių apie ACTN3 R577X polimorfizmą. Yra žinoma, kad α-aktinino-3 baltymo nėra pas 16 % pasaulio žmonių. Įdomu tai, kad mutavusio (X) alelio ir ypač pilno α-aktinino-3 (alelis XX) deficito dažnis yra ženkliai mažesnis tarp sprinto ir galingumo atletus. Todėl mes savo tyrime analizavome greitumo pratybų įtaką didesnio jėgos indėlio reikalaujantiems pratimams ir gautus rezultatus lyginome tarp skirtingų RR ir XX genotipų. Tyrimo tikslas – ištirti maksimalaus greitumo padidėjimo įtaką didesnio jėgos indėlio reikalaujantiems judamiesiems gebėjimams priklausomai nuo RR (gaminasi α-aktininas-3) ir XX (nesigamina α-aktininas-3) genotipo. Tyrimo objektas – greitumo pokytis ir to pokyčio įtaka didesnės jėgos reikalaujantiems judamiesiems gebėjimams RR ir XX genotipo grupėse. Tyrimo uždaviniai: 1. Nustatyti ir įvertinti, kaip po 10 maksimalaus greitumo lavinimo pratybų kito RR ir XX grupių greitumo judamasis... [toliau žr. visą tekstą] Running speed is one of the most important physical properties. It has various forms. Speed training does not decrease muscle contraction and relaxation speed. It is well known, that strength training decrease running speed results. That’s why we think that maybe the most important problem in sport science is how to increase strength without maximum muscle contraction and relaxation speed decrease. Also it is important to know how people with different genotypes can increase running speed. There are only few articles about ACTN3 R577X polymorphism. A common nonsense mutation (R577X) in the ACTN3, resulting in a premature stop codon and lack of detectable protein in homozygous individuals for the ACTN3 null allele (XX genotype), has been demonstrated in the general human population with 16 % prevalence in Caucasians. Sprint athletes have lower 577XX genotype frequency endurance athletes. That’s why we analyze running speed workouts influence to more strength required physical properties between RR and XX groups. The aim of the study - to investigate running speed increment influence to more strength required physical properties and compare results between RR (with α-actinin-3) and XX (without α-actinin-3) groups. The object of the study - running speed change and this change influence to more strength required physical properties between RR (with α-actinin-3) and XX (without α-actinin-3) groups. Study tasks: 1. To investigate how after maximum speed workouts vary running speed... [to full text]

APA, Harvard, Vancouver, ISO, and other styles

28

Ribeiro, Ieler Ferreira. "Avaliação das interações entre a suplementação antioxidante com o óleo de pequi (caryocar brasiliense camb.) e os polimorfismos nos genes da α-actinina-3 (ACTN-3), eritropoetina (EPO) e seu receptor (EPOR) nos resultados do hemograma, marcadores bioquímicos e peroxidação lipídica, em corredores de rua". reponame:Repositório Institucional da UnB, 2013. http://repositorio.unb.br/handle/10482/12984.

Full text

Abstract:

Dissertação (mestrado)—Universidade de Brasília, Faculdade de Medicina, Programa de Pós-Graduação em Patologia Molecular, 2013. Submitted by Alaíde Gonçalves dos Santos (alaide@unb.br) on 2013-04-30T14:41:02Z No. of bitstreams: 1 2013_IelerFerreiraRibeiro.pdf: 1216592 bytes, checksum: d00140db9fb6953ef58299c495cacd72 (MD5) Approved for entry into archive by Guimaraes Jacqueline(jacqueline.guimaraes@bce.unb.br) on 2013-05-02T13:04:00Z (GMT) No. of bitstreams: 1 2013_IelerFerreiraRibeiro.pdf: 1216592 bytes, checksum: d00140db9fb6953ef58299c495cacd72 (MD5) Made available in DSpace on 2013-05-02T13:04:00Z (GMT). No. of bitstreams: 1 2013_IelerFerreiraRibeiro.pdf: 1216592 bytes, checksum: d00140db9fb6953ef58299c495cacd72 (MD5) O exercício físico, por aumentar o consumo de oxigênio, pode produzir um desequilíbrio entre a geração de espécies reativas de oxigênio (ERO) e a capacidade de defesa antioxidante do organismo, levando ao estresse oxidativo. Esta sobrecarga oxidativa pode acarretar dano celular e graves lesões musculares com consequente processo inflamatório. Neste contexto, muitos atletas consomem suplementos antioxidantes para evitar os danos oxidativos, a inflamação e o consequente comprometimento do desempenho. O pequi (Caryocar brasiliense Camb.), um fruto típico do cerrado brasileiro, contém diversos componentes antioxidantes, importantes para reduzir ERO produzidas durante a atividade física. Visto que nutrientes presentes na alimentação podem interagir com o genoma humano para influenciar a saúde e a doença, e variabilidade genética também pode influenciar a resposta à dieta, estudos que avaliem esta interação podem contribuir para futuras intervenções dietéticas baseadas no conhecimento do requerimento nutricional, do estado nutricional e do genótipo. Alguns polimorfismos já foram descritos na literatura como agentes interferentes do desempenho atlético em determinadas categorias de esportes. Entre eles, várias variantes sob a forma de polimorfismos de nucleotídeo único (SNPs) já foram identificadas, incluindo os SNPs R577X no gene da α-actinina-3 (ACTN-3), T→ G na região promotora do gene da eritropoetina (EPO) e G6002A no receptor de eritropoetina (EPOR). O gene da ACTN-3 codifica a proteína α-actinina-3, componente altamente conservado da maquinaria contrátil das fibras rápidas da musculatura esquelética, e é expresso apenas em miofibras tipo II, que são fibras glicolíticas do músculo esquelético. O polimorfismo da ACTN-3 resulta na substituição de uma arginina (R) por um códon prematuro de parada (X) na posição 577 e cria uma proteína não funcional. A eritropoetina (EPO) é o principal hormônio endógeno regulador da eritropoiese, que permite a sobrevivência, proliferação, diferenciação das células progenitoras e, consequentemente, aumento da oxigenação dos tecidos. Assim, polimorfismos no gene da EPO ou de seu receptor (EPOR) podem afetar o desempenho atlético, por influenciarem a expressão de EPO. O objetivo deste trabalho foi investigar a influência dos SNPs rs1815739 no gene da ACTN-3, rs1617640 na região promotora do gene da EPO, e rs121918116 no gene da EPOR na peroxidação lipídica (Teste Tbars), hemograma completo e dosagens bioquímicas de creatina quinase (CK), aspartato aminotransferase (AST), alanina aminotransferase (ALT) e proteína Creativa (PCR e PCR-us), em uma amostra de corredores de rua do Distrito Federal (N=123), antes e depois da suplementação com 400mg de óleo de pequi em cápsulas ingeridas diariamente por 14 dias consecutivos. As amostras de sangue foram coletadas imediatamente após cada uma das corridas para realizar os testes. O DNA foi obtido por extração da fração leucocitária, e a genotipagem foi realizada por PCR seguida por corte com enzimas de restrição. Os dados estatísticos para as frequências alélicas e genotípicas foram gerados pelo programa Genepopweb®, e os demais dados pelo programa Statistical Package for the Social Sciences (SPSS). Os resultados demonstraram que todos os genótipos estudados encontraram-se em equilíbrio de Hardy- Weinberg (EHW). Apesar dos muitos parâmetros analisados apresentarem diferença significativa entre os sexos, faixas etárias e distâncias percorridas, nenhuma correlação entre esses parâmetros e os polimorfismos analisados foi encontrada. O polimorfismo da EPO influenciou os resultados do eritrograma e do plaquetograma, sugerindo uma vantagem aeróbica para o genótipo TG, e uma desvantagem para o genótipo GG sobre possíveis eventos de complicações microvasculares, enquanto não foi encontrada associação do polimorfismo da ACTN-3 com o desempenho de resistência. Ambos os polimorfismos influenciaram as respostas dos corredores ao óleo de pequi, onde respostas significativas foram observadas para o genótipo selvagem da EPO (TT) nos valores de eritrócitos (p=0,000), hematócrito (HCT, p=0,001), hemoglobina corpuscular média (HCM, p=0,000) e concentração hemoglobínica corpuscular média (CHCM, p=0,001); e para os genótipos TT e TG (p=0,000 para ambos) nos valores da amplitude ou variação da distribuição do tamanho dos eritrócitos (RDW). Diferenças significativas também foram observadas no plaquetograma só para os genótipos TT e TG. O polimorfismo da ACTN-3 influenciou principalmente os valores de AST e CK, onde os heterozigotos RX tiveram uma redução significativa nos valores de AST (p=0,037), e os homozigotos XX, nos valores de CK (p=0,010) após a suplementação o óleo de pequi. Esses resultados de resposta diferenciada de cada polimorfismo à suplementação com cápsulas de pequi demonstram a importância dos efeitos da nutrigenômica no desempenho do atleta. _______________________________________________________________________________________ ABSTRACT Physical exercise, by increasing oxygen consumption, can produce an imbalance between the generation of reactive oxygen species (ROS) and antioxidant defense capacity of the organism, leading to oxidative stress. This oxidative overload can cause cell damage and severe muscle damage with consequent inflammation. In this context, many athletes consume antioxidant supplements to prevent oxidative damage, inflammation and consequent impairment of performance. Pequi (Caryocar brasiliense Camb.), a typical fruit of the Brazilian Cerrado, contains several antioxidant components that are important to reduce ROS produced during physical activity. Since nutrients present in food can interact with the human genome to influence health and disease, and genetic variability may also influence the response to diet, studies evaluating this interaction may contribute to future dietary interventions based on knowledge of nutritional requirement, nutritional status and genotype. Some polymorphisms have been described in the literature as agents interfering in athletic performance in certain categories of sports. Among them, several variants in the form of single nucleotide polymorphisms (SNPs) have been identified, including the SNPs R577X in the α-actinin-3 gene (ACTN-3), T→G in the promoter region of the erythropoietin (EPO) gene, and G6002A in the erythropoietin receptor (EPOR). The ACTN-3 gene encodes protein α-actinin-3, a highly conserved component of the contractile machinery of the fast skeletal muscle fibers, and is expressed only in type II myofibers, which are glycolytic fibers of skeletal muscle. The ACTN-3 polymorphism results in substitution of an arginine (R) by a premature stop codon (X) at position 577 and creates a non-functional protein. Erythropoietin (EPO) is the main endogenous hormone regulator of erythropoiesis, which allows the survival, proliferation, and differentiation of progenitor cells and, hence, increased oxygenation of the tissues. Thus, polymorphisms in the EPO gene or in its receptor can affect athletic performance by influencing the expression of EPO. The aim of this study was to investigate the influence of the SNPs rs1815739 in the ACTN-3 gene, rs1617640 in the promoter region of the EPO gene, and rs121918116 EPOR gene in the lipid peroxidation (TBARS assay), taking a complete hemogram and biochemical dosages of creatine kinase (CK), aspartate aminotransferase (AST), alanine aminotransferase (ALT) and C-reactive protein (CRP and hs-CRP), in a sample of street runners from the Federal District (N=123), before and after supplementation of 400mg of pequi oil capsules taken daily for 14 consecutive days. Blood samples were taken immediately after racing to perform the tests. DNA was obtained by extraction of leukocyte fraction, and genotyping was performed by PCR followed by cut with restriction enzymes. Statistical data for the allele and genotype frequencies were generated by the program Genepopweb®, and other data by the program Statistical Package for the Social Sciences (SPSS). Results showed that all genotypes were found in Hardy-Weinberg Equilibrium (HWE). Although many examined parameters showed significant differences between sexes, age group and distance covered, no correlation between these parameters and the analyzed polymorphisms was found. EPO polymorphism influenced results of erythrogram and plateletgram, suggesting an aerobic advantage for TG genotype and a disadvantage for GG genotype concerning possible microvascular complication events, while no association was found for ACTN-3 polymorphism with endurance performance. Both polymorphisms influenced runner’s response to pequi oil, where the significant responses were observed for EPO wild type genotype (TT) in the red blood cells, hematocrit, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration values; and for TT and TG genotypes in the red cell distribution width values. Significant differences were also observed in the plateletgram only for TT and TG genotypes. ACTN-3 mainly influenced AST and CK values, where heterozygous RX had significant decrease in AST values (p=0.037), and homozygous XX in CK values (p=0.010) after pequi oil supplementation. These results of differential response of each polymorphism to the supplementation with pequi capsules demonstrate the importance of the effects of nutrigenomics on athletic performance.

APA, Harvard, Vancouver, ISO, and other styles

29

Cavallin, Mara. "Physiopathologie moléculaire et cellulaire des anomalies du développement du cortex cérébral : le syndrome d'Aicardi WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly Mutations in TBR1 gene leads to cortical malformations and intellectual disability Aicardi syndrome: Exome, genome and RNA-sequencing of a large cohort of 19 patients failed to detect the genetic cause Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction Recurrent KIF2A mutations are responsible for classic lissencephaly Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly Rare ACTG1 variants in fetal microlissencephaly De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy A novel recurrent LIS1 splice site mutation in classic lissencephaly Further refinement of COL4A1 and COL4A2 related cortical malformations Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused By EGP5 mutation Delineating FOXG1 syndrome from congenital microcephaly to hyperkinetic encephalopathy Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy." Thesis, Sorbonne Paris Cité, 2019. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=2213&f=18201.

Full text

Abstract:

Les malformations du cortex cérébral (MDC) représentent une cause importante de handicap et d'épilepsie pharmaco-résistante. Le séquençage à haut débit a permis une amélioration considérable de l'identification des bases moléculaires des MDC non syndromiques. Toutefois, certaines formes, notamment les MDC complexes, demeurent inexpliquées. Mon projet de thèse a pour objectif de progresser dans la compréhension des MDC complexes en utilisant deux modèles : les microlissencéphalies (MLIS) et le syndrome d'Aicardi (AIC), une forme syndromique particulière associant des malformations de l'oeil et du cerveau uniquement rapporté chez les filles. L'étude par séquençage d'exome en trios de 16 familles MLIS m'a permis d'identifier et de caractériser un nouveau gène, WDR81, impliqué dans le cycle cellulaire. Par la même stratégie, j'ai pu identifier un variant homozygote pathogène dans TLE1, un partenaire majeur de FOXG1 dans la balance prolifération/différenciation de progéniteurs neuronaux, dans une famille consanguine de microcéphalie postnatale dont le phénotype est proche du syndrome FOXG1. En parallèle, mes travaux ont permis de préciser les spectres phénotypiques associés à RTTN, EPG5, COL4A1, COL4A2, TBR1, KIF5C, KIF2A et FOXG1. La deuxième partie de mon projet avait pour objet l'identification des bases moléculaires du syndrome d'Aicardi à partir d'une cohorte internationale de 19 patientes. Après avoir exclu un biais d'inactivation du chromosome X et la présence de microremaniements chromosomiques, j'ai réalisé un séquençage d'exome en trio. Aucun variant récurrent n'a été retrouvé dans les séquences codantes. Dans un second temps, j'ai testé une approche combinant les données du séquençage de génome et l'analyse du transcriptome (RNA-Seq) sur fibroblastes, me permettant d'identifier des transcrits dérégulés qui étaient impliqués dans le développement du cerveau et de l'oeil. J'ai comparé les résultats de cette analyse avec ceux de l'analyse du génome dans le but d'identifier des variants dans ces gènes candidats. En conclusion, mon travail de thèse a permis d'améliorer la connaissance des bases moléculaires des MDC complexes et d'ouvrir des perspectives de nouveaux mécanismes tels que ceux engageant les gènes WDR81 et EPG5, et le rôle des endosomes et de l'autophagie dans les MDC, et aussi TLE1 comme nouvelle cause de microcéphalies postnatales. Mes travaux ont également permis de générer une collection de données de séquençage haut débit (WES, WGS et RNA-Seq) qui seront mises en commun dans le cadre d'un consortium international afin de développer des nouvelles stratégies d'analyse en particulier pour les séquences non codantes. Cette approche permettra également d'ouvrir la voie vers la compréhension des mécanismes cellulaires impliqués dans la formation du cerveau et de l' œil Malformations of cortical development (MCD) are a major cause of intellectual disability and drug-resistant epilepsy. Next Generation Sequencing (NGS) has considerably improved the identification of the molecular basis of non-syndromic MCD. However, certain forms, including complex MCD, remain unexplained. My PhD project aimed to improve the understanding of complex MCD using two disorders: Microlissencephaly (MLIS) and Aicardi Syndrome (AIC), the latter associating brain and eye malformations and only reported in girls. Trio Whole Exome Sequencing (WES) performed in 16 MLIS families allowed me to identify and functionally characterize a new MLIS gene, WDR81, in which mutations lead to cell cycle alteration. Moreover, using the same strategy, I was able to identify a pathogenic homozygous variant in TLE1 in a patient from consanguineous family with a postnatal microcephaly, suggestive of a FOXG1-like presentation. Interestingly, TLE1 is a major partner of FOXG1, a gene involved in maintaining the balance between progenitor proliferation and differentiation. In parallel, my work allowed me to redefine the phenotypic spectrum associated with RTTN, EPG5, COL4A1 and COL4A2, TBR1, KIF5C, KIF2A and FOXG1. The second part of my PhD program was aimed at identifying the genetic basis of AIC in an international cohort of 19 patients. After excluding a skewed X chromosome inactivation and the presence of chromosomal rearrangements, I performed WES in trios. The analysis of the data from WES did not allow me to identify any recurrent variants. I therefore tested a new approach combining Whole Genome Sequencing (WGS) and RNA-Sequencing (RNA-Seq) on fibroblast cells. I identified a number of deregulated transcripts implicated in brain and eye development. I compared the results of this analysis with the WGS analysis in order to find variants in these candidate genes. In conclusion, these studies have improved the knowledge of the molecular basis of complex MCD, such as TLE1 in postnatal microcephaly, and revealed the pathogenic mechanisms such as WDR81 in cell cycle progression and EPG5 in endosomes and autophagy. My work has also generated a collection of NGS data (WES, WGS and RNA-Seq) that will be shared in an international consortium to develop new analytical strategies, in particular for the non-coding DNA regions. This novel strategy provides opportunities to improve understanding of the cellular mechanisms involved in brain and eye development

APA, Harvard, Vancouver, ISO, and other styles

30

PYC, MICHAL. "Investigating the effects of increased ACT11 expression on sexual reproduction and trichome branching in Arabidopsis." Thesis, 2014. http://hdl.handle.net/1974/12247.

Full text

Abstract:

Activation-tagging is a powerful functional genomics technique used to identify plant genes and their functions. The random introduction of gene enhancers into the plant genome results in the overexpression of nearby genes, thus the gene responsible for a mutant phenotype can be determined based on the location of the enhancers. In a screen for activation-tagged Arabidopsis lines with aberrations in trichome morphology, a mutant (named P330) with unbranched trichomes was identified. In this thesis, the actin- encoding gene ACT11 was found to be upregulated by T-DNA pSKI015 in P330. Additionally, this line also produces a second mutant phenotype, characterized by a significant reduction in seed set. The findings presented in this thesis build upon previous work that has shown ACT11 is strongly expressed in reproductive organs (such as pollen and ovules) and rapidly elongating tissues in Arabidopsis. The role of actin has been characterized in Arabidopsis trichome morphogenesis, however much remains unclear about actin dynamics in sexual reproduction. Our investigation on the effects of increased ACT11 expression adds to our understanding of these processes and also provides the framework for future studies into trichome morphogenesis and sexual reproduction in flowering plants. Thesis (Master, Biology) -- Queen's University, 2014-06-24 15:14:59.429

APA, Harvard, Vancouver, ISO, and other styles

31

Silva, João Pedro Rebelo da. "O papel do polimorfismo R577X do gene ACTN3 no futebol." Master's thesis, 2020. https://hdl.handle.net/10216/128898.

Full text

Abstract:

O polimorfismo ACTN3 R577X é um dos mais promissores marcadores genéticos associados à performance desportiva, e os estudos existentes com futebolistas apontam para melhores desempenhos de velocidade e força e um menor risco de lesões associados ao alelo R deste polimorfismo. Assim, o polimorfismo ACTN3 R577X, combinado com outros marcadores, poderá ajudar na melhoria da performance desportiva dos futebolistas no futuro. No entanto, são necessários mais estudos que confirmem estes resultados, e as implicações éticas dos testes genéticos no desporto precisam de ser discutidas. The ACTN3 R577X polymorphism is one of the most promising genetic markers associated with athletic performance, and the current results link the presence of the R allele of this polymorphism in soccer players to better strength and speed performances and a lower injury risk. So, the ACTN3 R577X polymorphism, combined with other markers, could help on the improvement of the players performance levels in the future. However, further confirmatory studies are necessary, and ethical implications of genetic testing in sports need to be addressed.

APA, Harvard, Vancouver, ISO, and other styles

32

Silva, João Pedro Rebelo da. "O papel do polimorfismo R577X do gene ACTN3 no futebol." Dissertação, 2020. https://hdl.handle.net/10216/128898.

Full text

Abstract:

O polimorfismo ACTN3 R577X é um dos mais promissores marcadores genéticos associados à performance desportiva, e os estudos existentes com futebolistas apontam para melhores desempenhos de velocidade e força e um menor risco de lesões associados ao alelo R deste polimorfismo. Assim, o polimorfismo ACTN3 R577X, combinado com outros marcadores, poderá ajudar na melhoria da performance desportiva dos futebolistas no futuro. No entanto, são necessários mais estudos que confirmem estes resultados, e as implicações éticas dos testes genéticos no desporto precisam de ser discutidas. The ACTN3 R577X polymorphism is one of the most promising genetic markers associated with athletic performance, and the current results link the presence of the R allele of this polymorphism in soccer players to better strength and speed performances and a lower injury risk. So, the ACTN3 R577X polymorphism, combined with other markers, could help on the improvement of the players performance levels in the future. However, further confirmatory studies are necessary, and ethical implications of genetic testing in sports need to be addressed.

APA, Harvard, Vancouver, ISO, and other styles

33

Hua-ChienChang and 張華倩. "Investigating Metastasis-related Functions and Clinical Applications of ACTN4 in Lung Adenocarcinoma." Thesis, 2013. http://ndltd.ncl.edu.tw/handle/27895739857756297614.

Full text

Abstract:

碩士 國立成功大學 環境醫學研究所 101 Lung cancer is the leading cause of cancer related death worldwide. There is a lack of diagnostic tests that specifically address metastasis. In our previous research of comparison of cell secretomes with low and high metastatic abilities, Alpha-actinin-4 (ACTN4) exhibited high expression levels in the cell secretome with high metastatic ability. ACTN4 is one of the members in the ACTN family of binding filaments that preserve cytoskeletal structure and cell morphology. It is also known to have a critical role in transcriptional regulation; this suggests that ACTN4 may have an association with cancer metastasis. In this study, ACTN4 was investigated for its role in lung adenocarcinoma metastasis. Knockdown of ACTN4 expression in lung adenocarcinoma cell lines showed that ACTN4 was a critical mediator in the regulation of carcinoma invasion and cell migration. In the immunofluorescence and confocal microscopy studies, ACTN4 had an indirect effect on the distribution of Actin to plays an important role in the formation of a pseudopod or lamellipodium structure in the cell. Immunohistochemistry was also performed to study the expression levels of ACTN4 in tissues. We found that the ACTN4 expression significantly correlated with the staging of lung cancer; especially in T-staging and N-staging (which are the factors of metastasis progression). The expressed levels of ACTN4 were significantly higher in the tumor tissues than in the normal tissues. Furthermore, the plasma expression levels of ACTN4 in lung adenocarcinoma patients were significantly higher than in the normal controls by enzyme-linked immunosorbent assay. Our results suggest that ACTN4 protein has a significant association with lung cancer metastasis and thus may be a potential biomarker for early detection of lung adenocarcinoma metastasis.

APA, Harvard, Vancouver, ISO, and other styles

34

Chen, Tzu Wen, and 陳姿汶. "The associations of ACTN3, ACE, and PPARD polymorphisms with physical fitness performance." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/3s35nx.

Full text

Abstract:

碩士 國立臺灣師範大學 體育學系 97 Purpose: To examine the role of ACTN3, ACE and PPARD polymorphism on physical fitness performance in untrained person. Also, to assess the differences in effect of the polymorphism on phenotype associated with different physical performance. Methods: All 411 subjects were of native Taiwan students and aged from 16-18 years old (241 males and 170 females). Height, weight, BMI and body fat were measured. Physical fitness performance were measured in 40m sprint, 30 sec push-up, 60 sec push-up, 30 sec sit-ups, 60 sec sit-ups, handgrip strength, 25m swim, and 1600m run for males, 800m run for females. The genotype of ACTN3, ACE, and PPARD genes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). One-way ANOVA and Pearson’s product-moment correlation were used for statistical analysis. Results: In ACTN3, the female 30 sec sit-ups performance, RR genotype (19.29 ± 4.49 times) is greater than RX genotype (16.88 ± 4.13 times) (p < .05). In 60 sec sit-ups performance, RR genotype (35.42 ± 8.71 times) is also greater than RX genotype (29.91 ± 8.24 times) (p < .05). In ACE, the female handgrip strength performance, DD genotype (27.23± 4.39 kg) is greater than ID genotype (23.58 ± 4.20 kg) (p < .05). Conclusion: The subjects with ACTN3 RR and ACE DD genotype had better performance in 30 sec sit-ups, 60 sec sit-ups, and handgrip strength.

APA, Harvard, Vancouver, ISO, and other styles

35

Peng, Ching-Yi, and 彭瀞儀. "A research for the competitive relationship between ACTN2 and calmodulin to bind NRIP." Thesis, 2018. http://ndltd.ncl.edu.tw/handle/4xf3q4.

Full text

Abstract:

碩士 國立臺灣大學 微生物學研究所 106 Nuclear receptor interaction protein (NRIP) also named DDB1 and CUL4 associated factor 6 (DCAF6) and IQ motif and WD repeats 1 (IQWD1), is composed of seven WD-40 domains and an IQ motif. NRIP acts as a coactivator to enhance the transcriptional activity of androgen receptor (AR), glucocorticoid receptor (GR) and human papillomavirus (HPV) E2 or prevent AR and HPV E2 from proteasomal degradation. The physiological role of NRIP also determined by using of NRIP global and muscle-specific knockout mice. Previous studies have demonstrated that IQ motif of NRIP associates with calmodulin (CaM) in the presence of calcium (Ca2+) to activate calcineurin (CaN) and Ca2+/calmodulin-dependent protein kinase II (CaMKII) that regulates muscle functions and motor performance. Except NRIP role in skeletal muscle function, our unpublished results demonstrated that NRIP muscle-specific conditional knockout (cKO) mice revealed decrease of heart contraction and performed dilated cardiac hypertrophy. Furthermore, the interaction between NRIP and α-actinin-2 (ACTN2), a heart specific α-actinin isoforms, was also determined in vitro and in vivo. NRIP interacts either ACTN2 or CaM through its IQ motif. According to the study of Michael et al., N-methyl-D-aspartate receptor (NMDAR) containing IQ domain can bind to CaM and ACTN2 in the presence of Ca2+ resulting in recruiting CaMKII to NMDAR-CaM complex for kinase signaling. Like NMDAR, clathrin heavy chain (CHC), endothelial nitric oxide synthase (eNOS), L-type calcium channel (LTCC) and adenosine 2A receptor (A2AR), can interact both with CaM and α-actinin (ACTN). Some of these studies found the binding affinity of proteins with CaM and ACTN would be changed in the presence of Ca2+ that influences different biological consequences. Hence, we hypothesized that CaM and ACTN2 could compete for each other for binding with NRIP through NRIP IQ domain and exerted different biological functions. We firstly combined the His-MBP-NRIP, GST-ACTN2 and CaM proteins and performed in vitro His-tag pull down assay. In addition to in vitro experiments, we also expressed NRIP-GFP, ACTN2-V5 and CaM in 293T cells and performed immunoprecipitation experiments in vivo. We found that the combination of NRIP with ACTN2 and CaM did not achieve consistent results in the presence of Ca2+. Therefore we follow researches over the years and review our experiments.

APA, Harvard, Vancouver, ISO, and other styles

36

Papadimitriou, Ioannis D. "The influence of ACTN3 R577X genotype on performance and muscle adaptations to a single bout of exercise." Thesis, 2018. https://vuir.vu.edu.au/37829/.

Full text

Abstract:

ACTN3 has been labelled as the ‘gene for speed’ due to the increased frequency of the R allele encoding the α-actinin-3 protein in elite sprint athletes compared to the general population. The results of the first study of this thesis demonstrate that elite athletes who express α-actinin-3 (ACTN3 RR genotype) have faster sprint times compared to those who do not express α-actinin-3 (ACTN3 XX genotype). Further analysis indicates that the ACTN3 genotype accounts for 0.92% in sprint speed amongst elite 200-m athletes. In study two, the same quantitative genetic epidemiological design applied to elite endurance athletes, showed no evidence that a trade-off existed. The endurance athletes with the ACTN3 XX genotype were no faster than those who express the α-actinin-3 protein. These results added to literature that it is unlikely the ACTN3 XX genotype to offer an advantage for endurance performance. While ACTN3 genotype does not appear to influence endurance performance in athletes, studies in mice that completely lack the α-actinin-3 protein suggest the ACTN3 genotype influences the adaptive response to endurance exercise. Based on these findings, the aim of study 3 was to investigate if ACTN3 genotype influences exercise-induced changes in the content of genes and proteins associated with mitochondrial biogenesis. At baseline, there was a compensatory greater α-actinin-2 protein content in ACTN3 XX vs ACTN3 RR participants (p=0.018) but there were no differences in the endurance-related phenotypes measured. There was a main effect of genotype (p=0.006), without a significant interaction effect, for RCAN1-4 or significant exercise-induced expression of genes associated with mitochondrial biogenesis. Together, these results suggest that ACTN3 genotype has a small but significant influence on sprint speed amongst elite sprint athletes. However, loss of α-actinin-3 protein is not associated with higher values for endurance-related phenotypes, endurance performance, or a greater adaptive response to a single session of high-intensity endurance exercise.

APA, Harvard, Vancouver, ISO, and other styles

37

Nunes, José Ricardo de Assis. "O polimorfismo R577X do gene da α-actitina 3 (ACTN3) em atletas de elite brasileiros de decatlo". Master's thesis, 2017. http://hdl.handle.net/10348/7377.

Full text

Abstract:

Dissertação de Mestrado em Ciências do Desporto, Especialização em Avaliação e Prescrição na Atividade Física Introdução: O decatlo é uma modalidade desportiva composta por dez provas de atletismo, cumpridas durante dois dias. A performance desportiva nesta modalidade exige uma combinação óptima de diferentes capacidades, nomeadamente resistência, força, velocidade e agilidade. As pesquisas científicas no domínio da biotecnologia e da genética têm identificado um número crescente de genes candidatos com efeito significativo na performance desportiva. Salienta-se em vários estudos de associação que o polimorfismo R577X do gene da alpha-actinin-3 (ACTN3) influencia o desempenho desportivo em atletas de diferentes modalidades. A presença desta proteína funcional (α-actinina 3, ACTN3), enquanto componente estrutural da linha Z do músculo esquelético, parece contribuir para as variações de potência muscular e de velocidade efetiva de contração muscular. Contudo, carecem estudos que determinem o efeito deste polimorfismo no desempenho desportivo no decatlo. Objetivo: Verificar se a variação genética da região R577X do locus ACTN3 apresenta relação com o desempenho desportivo na prova do decatlo. Métodos: A amostra foi composta por 31 atletas de decatlo do gênero masculino, com idade de 18 a 50 (anos). O desempenho desportivo mais recente foi registado nas 10 provas que compõem o decatlo, distintas em provas de velocidade, saltos, arremesso e de lançamento. Procedeu-se à extração do ADN dos sujeitos, recorrendo-se à aplicação dos sítios polimórficos do gene ACTN3 através da técnica modificada de reação em cadeira de polimerase (PCR). Os dados foram agrupados e analisados estatisticamente, tendo sido considerado significativo um valor de P ≤ 0.05. Resultados: Foram identificadas correlações fortes e significativas no desempenho desportivo em particular entre os eventos de velocidade, saltos, arremesso e lançamentos. Foram obtidas as seguintes frequências genotípicas do polimorfismo R577X do ACTN3: RR=51.6% e RX=48.4%, RR=0%. Foi identificado um excesso do alelo R (0.76, p<0.01) nestes atletas. Contudo, não foram encontradas diferenças significativas no desempenho desportivo (pontuação) entre os grupos genotípicos (RR vs RX). Conclusão: Os resultados obtidos confirmam a importância do gene ACTN3 como um marcador genético útil na seleção específica em decatletas de elite brasileira, embora pareça limitado o seu efeito isolado no desempenho desportivo nas diferentes provas. Introduction: The decathlon is a sport consists of ten track and field events, met for two days. The sporting performance in this mode requires an optimal combination of different capacities, including endurance, strength, speed and agility. Scientific research in the field of biotechnology and genetics have identified a growing number of candidate genes with significant effect on sports performance. It is noted in several studies of association that the R577X polymorphism of the alpha-actinin-3 gene (ACTN3) influences sports performance in athletes of different modalities. The presence of the functional protein (α-actinin 3, ACTN3), as a structural component of skeletal muscle Z-line, appears to contribute to the changes of muscle power and the effective speed of muscle contraction. However, require studies to determine the effect of this polymorphism in sports performance in the decathlon. Objective: To determine if the genetic variation of R577X region of ACTN3 locus is correlated with sporting performance in the decathlon event. Methods: The sample consisted of 31 decathlon athletes males, aged 18-50 (years). The latest sports performance was recorded in 10 events that make up the decathlon, different in speed events, jumping, throwing and release. It proceeded to the extraction of DNA from the subject, resorting to the application of the polymorphic sites in the ACTN3 gene by polymerase chair in modified reaction (PCR). Data were grouped and analyzed statistically and were considered significant at P ≤ 0:05. Results: Strong and significant correlations were identified in sports performance in particular between the speed of events, jumping and throwing and throwing. RR = 51.6% and RX = 48.4%, RR = 0%: The following genotype frequencies of the ACTN3 R577X polymorphism were obtained. An allele of excess R been identified (0.76, p <0.01) in these athletes. However, there were no significant differences in sports performance (score) between the genotype groups (RR vs RX). Conclusion: The results confirm the importance of ACTN3 gene as a useful genetic marker in specific selection in decatletas Brazilian elite, although it seems limited its isolated effect on sporting performance in the tests.

APA, Harvard, Vancouver, ISO, and other styles

38

Pereira, Ana de Fátima da Costa. "Strength training and detraining in older women ACE I/D and ACTN3 R/X polymorphisms and muscle function." Doctoral thesis, 2014. http://hdl.handle.net/10348/3166.

Full text

Abstract:

Tese de Doutoramento em Ciências do Desporto Os declínios relacionados com o avanço da idade ocorrem de forma mais pronunciada nas características de potência muscular, fator inerente nas limitações funcionais e na qualidade de vida na população idosa. Estudos têm demonstrado uma variação substancial entre indivíduos em resposta ao treino de força, indicando o potencial papel da componente genética na adaptação muscular induzida pelo treino. O propósito desta investigação foi 1) examinar o efeito de 12 semanas de treino de potência com velocidade elevada na contração isométrica (força de preensão manual), força máxima (1RM) dos grupos musculares dos membros superiores e inferiores, potência muscular (velocidade de caminhar, salto com contramovimento e lançamento da bola medicinal) e testes funcionais (levantar e sentar da cadeira e levantar ir e voltar testes) em mulheres idosas; 2) analisar o impacto de 6 semanas de destreino na força máxima (1RM), potência e capacidade funcional (levantar e sentar da cadeira em 30s). Além disso, foi ainda objetivo identificar a magnitude das diferenças entre os sujeitos de acordo com a variação genética dos polimorfismos dos genes ECA (I/D) e ACTN3 (R577X) de forma singular ou combinada, antes e após 12 semanas de treino de potência com velocidade elevada. Para a realização dos nossos objetivos, a seguinte sequência foi utilizada: (i) revisão da literatura existente; (ii) analisar os efeitos do treino de potência com velocidade elevada na capacidade funcional e na performance muscular em mulheres idosas; (iii) examinar a retenção da performance muscular e da capacidade funcional após a cessação de treino; (iv) analisar a associação entre os polimorfismos dos genes ECA (I/D) e ACTN3 (R577X) de forma singular ou combinada, em resposta ao treino, (v) e analisar a influência dos genótipos musculares na funcionalidade da extremidade inferior após o programa de treino. Resultados sugerem: (i) o treino de potência com velocidade elevada é efetivo na melhoria da performance muscular e da capacidade funcional em mulheres idosas; (ii) o destreino parece induzir amplos declínios na força muscular em relação à produção de potência, preservando desta forma a independência física, mediada em parte, pela efetividade do treino com velocidades elevadas; (iii) os genótipos ECA e ACTN3 exercem uma influência significante (singular ou combinada) em fenótipos musculares em mulheres idosas em resposta ao treino de potência com velocidade elevada; (iv) os polimorfismos dos genes ECA (I/D) e ACTN3 (R577X) são candidatos na variação de fenótipos relacionados com a potência muscular em mulheres idosas, no entanto não exercem uma influência significantiva em tarefas de mobilidade. Age-realted declines are more pronounced in muscle power characteristics, a cornerstone of functional limitations and quality of life in older people. Studies have also shown substantial variation among subjects in response of resistant training, indicating the potential role of genetic component to training-induced muscle adaptation. The purpose of this investigation was twofold 1) examine the effect of 12 weeks high-speed power training on isometric contraction (handgrip strength), maximal strength (1RM) of the arm and leg muscles, power performance (walking velocity, counter movement jump and ball throwing) and functional tasks (sit-to-stand and get-up and go tests) in older women and 2) analyze the impact of 6 weeks of detraining on maximal strength (1RM), power performance and functional task (sit-to-stand test). Secondly, it was intended to identify the magnitude of the differences between the subjects according to the genetic variation of the human ACE I/D and ACTN3 R577X polymorphisms (single or combined) before and subsequent to 12 weeks of high-speed power training. For the accomplishment of these purposes the following sequence was used: (i) reviewing available literature; (ii) analyzing the effects of high-speed power training on functional capacity and muscle performance in older women; (iii) examine muscle performance and functional capacity retention after training cessation; (iv) analyzing the association between ACE I/D and ACTN3 R/X polymorphisms (single or combined) in response to training stimuli, (v) and analyze the influence of muscular genotypes on lower-extremity function after the program training. Results suggest that: (i) high-speed power training is an effective exercise approach leading to large gains in upper and lower extremity muscle performance and function capacity in older women; (ii) detraining may induce larger declines in muscle strength than in power output and preserved physical independence, mediated in part, by the effectiveness of high-speed power training; (iii) ACE and ACTN3 genotypes (single or combined) exert a significant influence specially in muscular power phenotypes of older women in response to high-speed power training; (iv) and ACE I/D and ACTN3 R577X polymorphisms are likely candidates in the modulation of exercise-related power phenotypes in older women but not a significant influence in mobility traits.

APA, Harvard, Vancouver, ISO, and other styles

39

Kiriaev, Leonit. "The role of branched muscle fibres and ACTN3 polymorphism as a genetic disease modifier in Duchenne nuscular dystrophy." Thesis, 2022. http://hdl.handle.net/1959.7/uws:68915.

Full text

Abstract:

Duchenne muscular dystrophy (DMD) is the second most common fatal genetic disease in humans, with an incidence of 1 in 3300 live male births. DMD is characterized by progressive cycles of skeletal muscle necrosis/regeneration triggered by the absence of the protein dystrophin from the inner surface of the sarcolemma. In DMD and dystrophin-negative mdx mice, regenerated skeletal muscle fibres are branched and deterioration of muscle contractile function with age is correlated with an increase in both the number and complexity of branched fibres. In this thesis, I present four papers in support of my hypothesis, that when the number and complexity of branched fibres in dystrophin-negative muscles reaches a critical threshold, termed ‘tipping point’, the branches in and of themselves, mechanically weaken the muscle and are susceptible to rupturing when subjected to high forces such as those experienced during eccentric/lengthening contractions. Methodologically, the papers utilise a combination of isolated muscle function contractile measurements coupled with single fibre imaging and confocal microscopy of cleared whole muscles. All experiments use intact muscles isolated from the dystrophic mdx mouse, double knockout (dk)Actn3KO/mdx (dKO) mouse and littermate controls. In conclusion, I propose a two-phase model to explain the aetiology of DMD. Phase-one involves the absence of dystrophin triggering a pathological increase in [Ca2+]in resulting in skeletal muscle fibre necrosis followed immediately by regeneration. The process proceeds cyclically, increasing the number of abnormally branched regenerated dystrophin-deficient muscle fibres. Once the number and complexity of branched fibres passes a level I term ‘tipping point’, phase-two occurs; now eccentric contractions cause force deficits as a consequence of branches rupturing. In the final stage, phase-two will tend to have a positive feedback component, as breaking branches will no longer support the eccentrically contracting muscle, placing additional stress on the remaining branches during the contraction. It is important to note that depending on the complexity of branching and forces experienced by the muscle, phase-one and phase-two are not mutually exclusive and will occur simultaneously.

APA, Harvard, Vancouver, ISO, and other styles

40

Zhang, Yuanyuan. "Actin crosslinking protein α-actinin-4 (ACTN4) regulates receptor-interacting serine/threonine-protein kinase 1 (RIPK1) in melanoma". Thesis, 2019. http://hdl.handle.net/1959.13/1395609.

Full text

Abstract:

Research Doctorate - Doctor of Philosophy (PhD) ACTN4 is a member of the α-actinin family of filamentous actin crosslinking proteins important for regulation of cytoskeletal integrity and cell movement (Honda, 2015; Honda et al., 1998; Hsu and Kao, 2013). Like other family members, ACTN4 contains an N-terminal actin-binding domain (ABD) with two calponin-homology (CH) repeats, a central rod domain (RD) with 4 spectrin-like repeats (SR) that is essential for anti-parallel dimerisation of ACTN4, and a calmodulin (CaM)-like domain (CLD) at the C-terminus (Broderick and Winder, 2002; Djinovic-Carugo et al., 2002; Hsu and Kao, 2013). Although ACTN4 is ubiquitously expressed in normal non-muscle cells (Hsu and Kao, 2013; Oikonomou et al., 2011), its expression is frequently increased in various types of cancer cells including melanoma cells and high ACTN4 expression levels are often correlated with disease progression and poor patient prognosis (Kakuya et al., 2017; Watanabe et al., 2015; Yamamoto et al., 2009). Indeed, there is increasing evidence pointing to a role of ACTN4 in the pathogenesis of cancer (Kakuya et al., 2017; Noro et al., 2013; Watabe et al., 2014; Yamamoto et al., 2009; Yamamoto et al., 2012). This is not only due to its critical involvement in regulation of cancer cell adhesion, invasion, and metastasis (Gao et al., 2015; Honda et al., 1998; Shao et al., 2014), but also closely associated with its role in regulation of signalling pathways through its interaction with a large array of proteins (Agarwal et al., 2013; Aksenova et al., 2013; Khurana et al., 2011). For example, ACTN4 targets the p65/RelA subunit of NF-κB to the nucleus in breast cancer cells upon stimulation with tumour necrosis factor α (TNF-α) or epithelial growth factor (EGF), where it functions as a co-factor for transactivation of nuclear factor κB (NF-κB) target genes (Aksenova et al., 2013; Babakov et al., 2008). Moreover, ACTN4 interacts with Akt1 and promotes its phosphorylation (activation) thus leading to enhanced cell survival and proliferation (Ding et al., 2006). Although the activity of ACTN4 is known to be modulated by multiple mechanisms such as processing by calpain protease, phosphorylation by protein kinases, and binding to phosphatidylinositol intermediates (Carragher et al., 2001; Shao et al., 2010; Sjoblom et al., 2008), how ACTN4 expression is regulated remains to be defined. RIPK1 is a Ser/Thr protein kinase that plays an important role in cell survival and death signal transduction and is a critical determinant of cell fate in response to cellular stress (Christofferson et al., 2012; Festjens et al., 2007; Jin et al., 2016; Liu et al., 2015; Luan et al., 2015; Wang et al., 2008), in particular, in response to activation of death receptors such as TNF receptor 1 (TNFR1). Upon TNFR1 stimulation, prosurvival complex I is formed via recruiting RIPK1 and other proteins involving cellular inhibitor of apoptosis proteins (cIAP1/2), TNFR-associated death domain (TRADD), and TNFR-associated factors (TRAF2/5) (Ofengeim and Yuan, 2013; Wang et al., 2008). This results in stabilisation of RIPK1 through K63-linked polyubiquitination by cIAPs (Bertrand et al., 2008; Liu et al., 2015). K63-linked polyubiquitin chains serve as substrates for binding of the transforming growth factor-β (TGF-β)-activated kinase 1 (TAK1)/TAK1-binding proteins 2 and 3 (TAB2/3) complex and NF-κB essential modulator (NEMO), leading to activation of NF-κB (Blackwell et al., 2013; Liu et al., 2015; Ofengeim and Yuan, 2013). When cIAPs are blocked, RIPK1 is deubiquitinated and its function is switched to that of promoting apoptosis, or alternatively, necroptosis in certain types of cells (Moquin et al., 2013; Wang et al., 2008). RIPK1 is often upregulated and promotes cell proliferation via activation of NF-κB in melanoma (Liu et al., 2015). Stabilisation of RIPK1 by cIAPs is critical for its increased expression (Bertrand et al., 2008; Liu et al., 2015). Here we demonstrate that ACTN4 is necessary for cIAP-mediated stabilisation of RIPK1 through acting as a scaffold to enable the physical association between cIAP1 and RIPK1, and thus plays a critical role in activation of NF-κB and promotion of melanoma cell proliferation. Moreover, we show that NF-κB signalling is responsible for ACTN4 transcriptional upregulation in melanoma cells.

APA, Harvard, Vancouver, ISO, and other styles

41

Berania, Ilyes. "La régulation des micro-ARNs dans les cancers de la langue mobile." Thèse, 2019. http://hdl.handle.net/1866/22306.

Full text

APA, Harvard, Vancouver, ISO, and other styles

42

Šafaříková, Markéta. "Genetické faktory ovlivňující průběh vybraných forem nefrotického syndromu." Master's thesis, 2011. http://www.nusl.cz/ntk/nusl-312728.

Full text

Abstract:

Nephrotic syndrome (NS) is characterized by proteinuria, hypalbuminemia and edemas. It occurs during first and second glomerulopathies. This disease can be divided into two groups: primary (idiopathic) and secondary. The heredity of the familial nephrotic syndrome is autosomal dominant and autosomal recessive. There are four most important genes that condition the formation of hereditary nephrotic syndrome in adult patienst. These genes are ACTN4, CD2AP, NPHS2 and TRPC6. The gene ACTN4, which encodes protein α-actinin 4, is responsible for the autosomal dominant form of focal segmental glomerulosclerosis (FSGS). FSGS is included in first glomerulopathies. α-Actinin 4 was also researched for some types of carcinomas. There was performed the mutational analysis of the gene ACTN4 on the set of 48 patients with nephrotic syndrome in this diploma thesis. High resolution melting (HRM) analysis and sequencing selected samples were used during this mutation detection. During this process many published and unpublished SNPs and one unpublished candidate mutation that could have causal associations with FSGS were found.

APA, Harvard, Vancouver, ISO, and other styles

43

Šafaříková, Markéta. "Geneticky podmíněné faktory progrese vybraných forem chronických nefropatií." Doctoral thesis, 2019. http://www.nusl.cz/ntk/nusl-396192.

Full text

Abstract:

Nephrotic syndrome is characterized by proteinuria, hypoproteinemia, edemas and hyperlipidemia. It occurs in primary (e.g. focal segmental glomerulosclerosis, FSGS or minimal change disease, MCD) and in secondary glomerulopathies (e.g. kidney amyloidosis). In primary forms, great attention is paid to the potential genetic background of the disease and due to new molecular genetic methods genes, whose mutations cause different nephropathies (e.g. ACTN4 or INF2) were identified. The aims of presented doctoral thesis were following. Firstly, to continue the mutational analysis of ACTN4 that was described in the author's diploma thesis in other glomerulopathies. Secondly, to implement the mutational analysis of INF2 and subsequently analyse this gene in patients with FSGS/MCD and in patients from special group characterized by positive family history for end stage renal disease (ESRD) in combination with advanced chronic kidney disease (CKD) or already developed ESRD at the time of diagnosis. Thirdly, mutational analysis of NPHS2 and TRPC6 (methods implemented in laboratory earlier) in selected patients from the special group. Finally, expression analyses of genes important for podocyte function or connected with human immune system. This part also verifies the applicability of NPHS2/SYNPO expression...

APA, Harvard, Vancouver, ISO, and other styles

44

Zavatteri, Matteo. "Temporal and Resource Controllability of Workflows Under Uncertainty." Doctoral thesis, 2018. http://hdl.handle.net/11562/979769.

Full text

Abstract:

Workflow technology has long been employed for the modeling, validation and execution of business processes. A workflow is a formal description of a business process in which single atomic work units (tasks), organized in a partial order, are assigned to processing entities (agents) in order to achieve some business goal(s). Workflows can also employ workflow paths (projections with respect to a total truth value assignment to the Boolean variables associated to the conditional split connectors) in order (not) to execute a subset of tasks. A workflow management system coordinates the execution of tasks that are part of workflow instances such that all relevant constraints are eventually satisfied. Temporal workflows specify business processes subject to temporal constraints such as controllable or uncontrollable durations, delays and deadlines. The choice of a workflow path may be controllable or not, considered either in isolation or in combination with uncontrollable durations. Access controlled workflows specify workflows in which users are authorized for task executions and authorization constraints say which users remain authorized to execute which tasks depending on who did what. Access controlled workflows may consider workflow paths too other than the uncertain availability of resources (users, throughout this thesis). When either a task duration or the choice of the workflow path to take or the availability of a user is out of control, we need to verify that the workflow can be executed by verifying all constraints for any possible combination of behaviors arising from the uncontrollable parts. Indeed, users might be absent before starting the execution (static resiliency), they can also become so during execution (decremental resiliency) or they can come and go throughout the execution (dynamic resiliency). Temporal access controlled workflows merge the two previous formalisms by considering several kinds of uncontrollable parts simultaneously. Authorization constraints may be extended to support conditional and temporal features. A few years ago some proposals addressed the temporal controllability of workflows by encoding them into temporal networks to exploit "off-the-shelf" controllability checking algorithms available for them. However, those proposals fail to address temporal controllability where the controllable and uncontrollable choices of workflow paths may mutually influence one another. Furthermore, to the best of my knowledge, controllability of access controlled workflows subject to uncontrollable workflow paths and algorithms to validate and execute dynamically resilient workflows remain unexplored. To overcome these limitations, this thesis goes for exact algorithms by addressing temporal and resource controllability of workflows under uncertainty. I provide several new classes of (temporal) constraint networks and corresponding algorithms to check their controllability. After that, I encode workflows into these new formalisms. I also provide an encoding into instantaneous timed games to model static, decremental and dynamic resiliency and synthesize memoryless execution strategies. I developed a few tools with which I carried out some initial experimental evaluations.

APA, Harvard, Vancouver, ISO, and other styles

Dissertations / Theses on the topic 'ACTN1'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles