Journal articles: 'ACTN1'

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Boutroux, Helene, Bianca David, Paul Guéguen, Pierre Frange, Anne Vincenot, Guy Leverger, and Rémi Favier. "ACTN1-related Macrothrombocytopenia." Journal of Pediatric Hematology/Oncology 39, no. 8 (November 2017): e515-e518. http://dx.doi.org/10.1097/mph.0000000000000885.

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Bottega, Roberta, Caterina Marconi, Michela Faleschini, Gabriele Baj, Claudia Cagioni, Alessandro Pecci, Tommaso Pippucci, et al. "ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization." Blood 125, no. 5 (January 29, 2015): 869–72. http://dx.doi.org/10.1182/blood-2014-08-594531.

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Key Points ACTN1 mutations were identified in 10 of 239 families with inherited thrombocytopenia of unknown origin. ACTN1-related thrombocytopenia is characterized by mild thrombocytopenia with platelet macrocytosis and low risk for bleeding.

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Dubayle, David, Arnaud Vanden-Bossche, Tom Peixoto, and Jean-Luc Morel. "Hypergravity Increases Blood–Brain Barrier Permeability to Fluorescent Dextran and Antisense Oligonucleotide in Mice." Cells 12, no. 5 (February 24, 2023): 734. http://dx.doi.org/10.3390/cells12050734.

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The earliest effect of spaceflight is an alteration in vestibular function due to microgravity. Hypergravity exposure induced by centrifugation is also able to provoke motion sickness. The blood–brain barrier (BBB) is the crucial interface between the vascular system and the brain to ensure efficient neuronal activity. We developed experimental protocols of hypergravity on C57Bl/6JRJ mice to induce motion sickness and reveal its effects on the BBB. Mice were centrifuged at 2× g for 24 h. Fluorescent dextrans with different sizes (40, 70 and 150 kDa) and fluorescent antisense oligonucleotides (AS) were injected into mice retro-orbitally. The presence of fluorescent molecules was revealed by epifluorescence and confocal microscopies in brain slices. Gene expression was evaluated by RT-qPCR from brain extracts. Only the 70 kDa dextran and AS were detected in the parenchyma of several brain regions, suggesting an alteration in the BBB. Moreover, Ctnnd1, Gja4 and Actn1 were upregulated, whereas Jup, Tjp2, Gja1, Actn2, Actn4, Cdh2 and Ocln genes were downregulated, specifically suggesting a dysregulation in the tight junctions of endothelial cells forming the BBB. Our results confirm the alteration in the BBB after a short period of hypergravity exposure.

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Kunishima, Shinji, Katsumasa Kitamura, Motoko Yasutomi, and Ryoji Kobayashi. "Diagnostic biomarker for ACTN1 macrothrombocytopenia." Blood 126, no. 22 (November 26, 2015): 2525–26. http://dx.doi.org/10.1182/blood-2015-08-666180.

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Westbury, Sarah K., Deborah K. Shoemark, and Andrew D. Mumford. "ACTN1 variants associated with thrombocytopenia." Platelets 28, no. 6 (August 18, 2017): 625–27. http://dx.doi.org/10.1080/09537104.2017.1356455.

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Kunishima, Shinji, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Masashi Sanada, Hideki Muramatsu, Kenichi Chiba, et al. "ACTN1 Mutations Cause Congenital Macrothrombocytopenia." American Journal of Human Genetics 92, no. 3 (March 2013): 431–38. http://dx.doi.org/10.1016/j.ajhg.2013.01.015.

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Yang, Xinrui, Yifan Pang, Jilei Zhang, Jinlong Shi, Xinpei Zhang, Gaoqi Zhang, Siyuan Yang, et al. "High Expression Levels of ACTN1 and ACTN3 Indicate Unfavorable Prognosis in Acute Myeloid Leukemia." Journal of Cancer 10, no. 18 (2019): 4286–92. http://dx.doi.org/10.7150/jca.31766.

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Suresh, Rahul, Sophie Fiola, Jamie Beaulieu, and Roberto Diaz. "PATH-14. ALPHA CARDIAC ACTIN EXPRESSION IS OBSERVED IN AGGRESSIVE GLIOMA SUBTYPES AND GLIOBLASTOMA STEM CELLS." Neuro-Oncology 23, Supplement_6 (November 2, 2021): vi117. http://dx.doi.org/10.1093/neuonc/noab196.466.

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Abstract BACKGROUND Alterations in actin subunit expression have previously been observed in multiple cancers. In glioblastoma (GBM), the expression of ACTC1 has been associated with a more invasive phenotype and with shorter survival. We sought to explore the diversity of actin subunit expression across glioma subtypes and patient derived glioblastoma stem cells (GSCs). METHODS Bioinformatic analysis of multiple glioma databases was performed to profile actin subunit (ACTA1, ACTA2, ACTC1, ACTG1, ACTG2, and ACTB) mRNA levels. Expression levels were also evaluated in normal brain in comparison to liver and heart tissue. Western blot was used to analyze protein expression in GSCs, surgical tissue and human fetal astrocytes. RESULTS The primary actin subunits expressed in normal brain are beta actin (ACTB) and gamma actin (ACTG1). RNA sequencing of tissue from multiple glioma subtypes or different brain regions reveals a global increase in ACTG1 and ACTB abundance in gliomas compared to normal brain. LGG-GCIMP high and LGG-co-deleted glioma subtypes have the lowest ACTC1 expression. LGG-GCIMP low (HR 9.75, P< 0.001), LGG-mesenchymal-like (HR11.1, P< 0.001), LGG-classic-like (HR10.96, P< 0.001) subtypes are associated with ACTC1 expression. ACTC1, ACTCB, and ACTG protein expression was observed in GSCs, freshly resected GBM tissue, and human fetal astrocytes. CONCLUSIONS Gliomas have a specific pattern of actin subunit expression that differs in actin subunit type and abundance when compared to normal adult brain. Expression of ACTC1 is found in aggressive glioma subtypes and is shared by GSCs and human fetal astrocytes. Investigation into the neurodevelopmental role of ACTC1 and its contribution to oncogenic transformation in GBM is warranted.

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Vincenot, Anne, Paul Saultier, Shinji Kunishima, Marjorie Poggi, Marie‐Françoise Hurtaud‐Roux, Alain Roussel, ACTN1 study coinvestigators, Nicole Schlegel, and Marie‐Christine Alessi. "Novel ACTN1 variants in cases of thrombocytopenia." Human Mutation 40, no. 12 (November 6, 2019): 2258–69. http://dx.doi.org/10.1002/humu.23840.

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Ashaie, Maeirah Afzal, Rowshan Ara Islam, Nur Izyani Kamaruzman, Nabilah Ibnat, Kyi Kyi Tha, and Ezharul Hoque Chowdhury. "Targeting Cell Adhesion Molecules via Carbonate Apatite-Mediated Delivery of Specific siRNAs to Breast Cancer Cells In Vitro and In Vivo." Pharmaceutics 11, no. 7 (July 2, 2019): 309. http://dx.doi.org/10.3390/pharmaceutics11070309.

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While several treatment strategies are applied to cure breast cancer, it still remains one of the leading causes of female deaths worldwide. Since chemotherapeutic drugs have severe side effects and are responsible for development of drug resistance in cancer cells, gene therapy is now considered as one of the promising options to address the current treatment limitations. Identification of the over-expressed genes accounting for constitutive activation of certain pathways, and their subsequent knockdown with specific small interfering RNAs (siRNAs), could be a powerful tool in inhibiting proliferation and survival of cancer cells. In this study, we delivered siRNAs against mRNA transcripts of over-regulated cell adhesion molecules such as catenin alpha 1 (CTNNA1), catenin beta 1 (CTNNB1), talin-1 (TLN1), vinculin (VCL), paxillin (PXN), and actinin-1 (ACTN1) in human (MCF-7 and MDA-MB-231) and murine (4T1) cell lines as well as in the murine female Balb/c mice model. In order to overcome the barriers of cell permeability and nuclease-mediated degradation, the pH-sensitive carbonate apatite (CA) nanocarrier was used as a delivery vehicle. While targeting CTNNA1, CTNNB1, TLN1, VCL, PXN, and ACTN1 resulted in a reduction of cell viability in MCF-7 and MDA-MB-231 cells, delivery of all these siRNAs via carbonate apatite (CA) nanoparticles successfully reduced the cell viability in 4T1 cells. In 4T1 cells, delivery of CTNNA1, CTNNB1, TLN1, VCL, PXN, and ACTN1 siRNAs with CA caused significant reduction in phosphorylated and total AKT levels. Furthermore, reduced band intensity was observed for phosphorylated and total MAPK upon transfection of 4T1 cells with CTNNA1, CTNNB1, and VCL siRNAs. Intravenous delivery of CTNNA1 siRNA with CA nanoparticles significantly reduced tumor volume in the initial phase of the study, while siRNAs targeting CTNNB1, TLN1, VCL, PXN, and ACTN1 genes significantly decreased the tumor burden at all time points. The tumor weights at the end of the treatments were also notably smaller compared to CA. This successfully demonstrates that targeting these dysregulated genes via RNAi and by using a suitable delivery vehicle such as CA could serve as a promising therapeutic treatment modality for breast cancers.

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Yasutomi, Motoko, Shinji Kunishima, Shintaro Okazaki, Akihiko Tanizawa, Shinya Tsuchida, and Yusei Ohshima. "ACTN1 rod domain mutation associated with congenital macrothrombocytopenia." Annals of Hematology 95, no. 1 (October 10, 2015): 141–44. http://dx.doi.org/10.1007/s00277-015-2517-6.

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Xie, Guo-feng, Luo-dan Zhao, Qiang Chen, Dong-xiao Tang, Qiong-yu Chen, Hong-fei Lu, Jia-rong Cai, and Zheng Chen. "High ACTN1 Is Associated with Poor Prognosis, and ACTN1 Silencing Suppresses Cell Proliferation and Metastasis in Oral Squamous Cell Carcinoma." Drug Design, Development and Therapy Volume 14 (May 2020): 1717–27. http://dx.doi.org/10.2147/dddt.s244516.

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Kremerskothen, Joachim, Iskender Teber, Doreen Wendholt, Thomas Liedtke, Tobias M. Böckers, and Angelika Barnekow. "Brain-specific splicing of α-actinin 1 (ACTN1) mRNA." Biochemical and Biophysical Research Communications 295, no. 3 (July 2002): 678–81. http://dx.doi.org/10.1016/s0006-291x(02)00734-9.

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Akin Bali, Dilara Fatma. "Why Cytoskeletal Associated Proteins are Important in Colorectal Cancer Patients: Molecular & Bioinformatic Analysis." Lokman Hekim Health Sciences 1, no. 1 (2021): 14–31. http://dx.doi.org/10.14744/lhhs.2021.70004.

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Introduction: It has been aimed to analyze the role of pathogenic effects of mutation and expression anomalies occurring on diaphanous-related formin 1 (DIAPH1), WASP actin nucleation-promoting factor (WASP), myosin heavy chain 9 (MYH9), actinin alpha 1 (ACNT1), filamin A (FLNA), and tubulin beta 1 class VI (TUBB1), which are known as fundamental cellular skeleton proteins, on the development and progression of cancer via bioinformatic tools. Methods: The genome sequence and expression profiles of 594 Colorectal Cancer (CRC) patients were obtained via bioinformatic tools, which provide data for The Cancer Genome Atlas. The mutation patterns of six genes were determined in detail, and for the prediction of pathogenic properties of identified changes for CRC, Polymorphism Phenotyping v2, Screening for Non-Acceptable Polymorphisms, and the Catalogue Of Somatic Mutations In Can- cer were utilized. Apart from the mutation profile, the effects of existing mutations on messenger ribonucleic acid (mRNA) expression and survival were also identified. Moreover, the Search Tool for the Retrieval of Interacting Genes/Proteins network analysis was realized to further comprehend the functional relations of proteins in cellu- lar processes. Results: There have been 142 distinct point mutations, gene amplification, and deep deletions identified on DIAPH1, WAS, MYH9, ACNT1, FLNA, and TUBB1 genes. ACTN1 and FLNA low mRNA expression levels for DIAPH1 increased, and the mRNA expression level was statistically significant (p<0.05). Prognosis-wise, the effect of mRNA expression on survival in the absence of disease was meaningful for FLNA (p=0.011). Discussion and Conclusion: Bioinformatic analysis data in DIAPH1, WASP, MYH9, ACNT1, FLNA, and TUBB1 genes, which are important in CRC pathogenesis revealed in this study, will be a guide for future laboratory studies.

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Гиря, В. М., О. І. Метлицька, В. Є. Усачова, О. І. Мироненко, and В. Г. Слинько. "ВЗАЄМОЗВ՚ЯЗОК СПЕРМОПРОДУКТИВНОСТІ ТА СТАТЕВОЇ АКТИВНОСТІ КНУРІВ- ПЛІДНИКІВ РІЗНИХ ГЕНОТИПІВ ЗА ГЕНАМИ ACTN1 I FSHβ." Вісник Полтавської державної аграрної академії, no. 1 (March 27, 2020): 130–39. http://dx.doi.org/10.31210/visnyk2020.01.15.

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Стаття присвячена оцінці генотипів кнурів-плідників за показниками статевої активності і спе-рмопродуктивності та виявленню бажаних генотипів генів ACTN1, FSHβ для подальшої селекційної роботи у стаді. Метою наших досліджень було виявити зв՚язок генетичної структури кнурів-плідників за генами ACTN1, FSHβ та описати вплив їх поліморфізму на показники спермопродуктив-ності та статевої активності кнурів різних порід. Аналіз спермопродуктивності плідників за геном АСТN1 показав, що кнури генотипу АА мали більший на 28,6 мл об’єм еякуляту (11,8 %, Р≤0,05), ніж їх ровесники генотипу ВВ, однак поступались особинам з генотипом АВ на 52,4 мл (19,3 %). Виявле-но, що спермопродуктивність і статева активність плідників за геном FSHβ були подвійно: кнури великої білої породи мали більший об’єм еякуляту (на 89,0–33,7 мл, або у 0,8–4,3 раза), а плідники по-роди ландрас навпаки поступались за цим показником (на 114,5–123,3 мл, або на 51,5–57,7 %). Ре-зультати статистично високо достовірні (р≤0,001). У середньому ж по оціненим кнурам достовір-на різниця встановлена між генотипами за рухливістю спермій (р≤0,05). Зафіксовано статистично достовірну перевагу (Р≤0,001) гетерозисних кнурів генотипу АВ гену ACTN1 великої білої породи, ландрас, дюрок за показниками контакту з фантомом і ерекцією на 42,5–55,4 с., а також інтенсив-ністю еякуляції відповідно на 0,082–0,313 с., що й підтверджено вищими індексними показниками (2,1–4,2). За геном FSHβ підтверджена така ж тенденція відносно статевої активності досліджу-ваних кнурів. Загалом аналіз гаплотипів двох генів АСТN1 і FSHβ показав, що відбір кнурів за їх лібідо та спермопродуктивністю буде ефективнішим за субгенотипом АВАА, порівняно з генотипами АВАВ і АААВ спостерігається збільшення еякуляту на 7,6–38,6 %, концентрації спермій – на 14,3–30,2 %, рухливості спермій – на 2,5–4,6 %, вища статевою активністю: за контактом плідника з фантомом і ерекцією на 47,8–79,2 % та інтенсивністю еякуляції – на 5,0–14,5 %. Для оцінки продук-тивних якостей кнурів-плідників відмічена окрема роль використання індексів спермопродуктивнос-ті та статевої активності, які дають можливість проводити об՚єктивну оцінку племінної цінності кнурів для встановлення їх селекційного рейтингу.

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Beaulieu, Jamie, David Knapp, Daniel Picard, Marc Remke, Abbas Sadikot, and Roberto Diaz. "CNSC-32. ACTIN SUBUNIT STRUCTURAL DIVERSITY IN SHH MEDULLOBLASTOMA: IMPLICATIONS FOR CANCER BIOLOGY AND NEURODEVELOPMENT." Neuro-Oncology 24, Supplement_7 (November 1, 2022): vii29. http://dx.doi.org/10.1093/neuonc/noac209.113.

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Abstract BACKGROUND Altered expression of actin subunits is found in multiple cancers. Alpha-cardiac actin (ACTC1) is expressed in sonic hedgehog medulloblastoma (SHH MB) and regulates both cell survival and migration. We hypothesized that cardiac actin has a unique structural and functional role in SHH MB and may be expressed in post-natal granule cell progenitors (GCPs) which share similar gene expression profiles. METHODS Actin subunit protein expression (ACTC1, ACTB, ACTG1, and ACTA2) was evaluated by mRNA expression profiling within established datasets and across MB cell lines by Western blot (WB). Immunofluorescence microscopy was performed to assess intracellular actin subunit localization. The composition of each subunit in filamentous (F-) actin was evaluated. Furthermore immunoprecipitation of filamentous ACTC1 was performed to assess protein-protein interactions. The ratio of F-actin to globular (G-) actin was determined by WB in SHH MB cells exposed to mitotic inhibitor. Cell viability was determined by colony formation following over-expression of dominant-negative mutant ACTC1 (P116C & G247D). RESULTS ACTC1, ACTG1, and ACTB are the predominant actin subunits in SHH MB. Immunofluorescence microscopy demonstrated co-localization of ACTC1 with ACTG1 and ACTB but not ACTA2. ACTC1 showed a unique cortical localization pattern. Post-natal MATH1 positive mouse GCPs (P3-5) demonstrate similar distribution of ACTC1 in cortical F-actin. WB analysis of ACTC1 pulldown from SHH MB cell F-actin fractions showed co-precipitation with ACTG1 and ACTB but not ACTA2. ACTC1 F-actin to G-actin ratio is maintained in cells that show resistance to mitotic inhibition. Expression of mutant ACTC1 G247D resulted in reduced cell survival. CONCLUSIONS ACTC1 subunit is incorporated into F-actin in SHH MB and GCPs. Filamentous ACTC1 forms a protein complex with ACTG1 and ACTB. Disruption of ACTC1 polymerization results in reduced cell survival. These findings suggest a functional role of ACTC1 in both SHH MB and in GCPs which are important in cerebellar development.

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Usik, Maria A., and Irina V. Ogneva. "Cytoskeleton Structure in Mouse Sperm and Testes After 30 Days of Hindlimb Unloading and 12 Hours of Recovery." Cellular Physiology and Biochemistry 51, no. 1 (2018): 375–92. http://dx.doi.org/10.1159/000495235.

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Background/Aims: Changes in the external mechanical field result in cytoskeleton reorganization and the formation of adaptive patterns in different types of cells, including somatic cells and sex cells. The aim of this research was to study the protein and mRNA content of cytoskeletal and sperm-specific genes in the sperm and testis cells of mice. Methods: Mice were subjected to 30 days of antiorthostatic suspension to simulate weightlessness, followed by 12 h of recovery, while receiving essential phospholipids at a dosage of 500 mg/kg/day (30HSE and 30HSE+12h groups) or a similar dosage of a placebo (30HS and 30HS+12h groups). Accordingly, reference groups (CE group and C group) were formed. The total number and the percentage of motile spermatozoa were calculated using a Makler chamber. To analyze the number of viable spermatozoa and the permeability of their membranes, eosin staining was used as well as Diff-Quick for a morphological evaluation. Relative protein and mRNA content was estimated in a western blot and quantitative PCR assay, respectively. Results: The relative protein expression levels of actin (beta and gamma) and two alpha-actinin isoforms (1 and 4) remained constant in the sperm of all study groups, except for the 30HS+12h group, where the alpha-actinin-4 level was 13% higher than in the reference group (p < 0.1). In the testis cells, the relative actin isoform content was equivalent to that in the spermatozoa. However, in the testis cells, the ACTN1 mRNA content was 17% higher in the 30HS group than in the C group (p < 0.05), and decreased after 12 h of recovery. In contrast, the ACTN4 mRNA content was 20% lower in the 30HS group than in the reference group (p < 0.05) and increased after the 12-h recovery period. At the same time, in the group administered the essential phospholipids, the relative ACTN1 and ACTN4 mRNA content did not differ from those of the reference group. The relative beta-tubulin content was similar in the reference C group and the reference CE group, which was administered the essential phospholipids. In the 30HS and 30HS+12h groups, the beta-tubulin content decreased by 19% and 22% (p < 0.05), respectively, and they also decreased in the groups administered the essential phospholipids (30HSE and 30HSE+12h groups, by 27% and 33%, respectively, p < 0.05). In the testis tissue, the relative tubulin content did not change in any of the experimental groups. At the same time, the relative mRNA content of the genes encoding the studied cytoskeletal proteins increased, which may indicate the protein content was regulated mainly at the translational level. Conclusion: The spermogram parameters and the content of the sperm-specific proteins and the associated mRNAs revealed a decrease in the number of mature spermatozoa in mice suspended under conditions of weightlessness. Moreover, the decrease was prevented by the administration of essential phospholipids.

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Sharma, Parveen, Thiruchelvi Shathasivam, Vladimir Ignatchenko, Thomas Kislinger, and Anthony O. Gramolini. "Identification of an FHL1 protein complex containing ACTN1, ACTN4, and PDLIM1 using affinity purifications and MS-based protein–protein interaction analysis." Molecular BioSystems 7, no. 4 (2011): 1185. http://dx.doi.org/10.1039/c0mb00235f.

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Morrison, A. A., J. P. Venables, G. Dellaire, and M. R. Ladomery. "The Wilms tumour suppressor protein WT1 (+KTS isoform) binds alpha-actinin 1 mRNA via its zinc-finger domain." Biochemistry and Cell Biology 84, no. 5 (October 2006): 789–98. http://dx.doi.org/10.1139/o06-065.

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Mutations in WT1 are associated with developmental syndromes that affect the urogenital system and neoplasms, including Wilms tumour, acute myeloid leukemia, and breast and prostate cancers. The WT1 protein belongs to the early growth response family of zinc-finger transcription factors. Uniquely to WT1, an evolutionarily conserved alternative splice event inserts the tripeptide KTS, between zinc fingers 3 and 4. Whereas –KTS isoforms bind DNA and activate or repress transcription, +KTS isoforms bind DNA less efficiently and interact with splice factors and RNA in vitro and in vivo. Although candidate DNA targets have been found, physiological mRNA targets are yet to be defined. We examined the distribution of WT1 in ribonucleoprotein (RNP) complexes in nuclear extract prepared from M15 cells, a mouse mesonephric fetal kidney cell line. WT1 cofractionated with the splice factor PSF in large RNP particles ≥2 MDa. We also found that PSF co-immunoprecipitated with WT1, suggesting a functional interaction between these 2 multifunctional proteins. Using yeast three-hybrid library constructed from the co-immunoprecipitated RNA we found that WT1 (+KTS) binds close to or at the start codon of alpha-actinin 1 (ACTN1) mRNA. A band shift assay confirmed the ability of the WT1 zinc-finger domain (+KTS) to bind this sequence in vitro. ACTN1 is the first likely physiological mRNA target of WT1.

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Norman, Barbara, Mona Esbjörnsson, Håkan Rundqvist, Ted Österlund, Ferdinand von Walden, and Per A. Tesch. "Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes." Journal of Applied Physiology 106, no. 3 (March 2009): 959–65. http://dx.doi.org/10.1152/japplphysiol.91435.2008.

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α-Actinins are structural proteins of the Z-line. Human skeletal muscle expresses two α-actinin isoforms, α-actinin-2 and α-actinin-3, encoded by their respective genes ACTN2 and ACTN3. ACTN2 is expressed in all muscle fiber types, while only type II fibers, and particularly the type IIb fibers, express ACTN3. ACTN3 (R577X) polymorphism results in loss of α-actinin-3 and has been suggested to influence skeletal muscle function. The X allele is less common in elite sprint and power athletes than in the general population and has been suggested to be detrimental for performance requiring high power. The present study investigated the association of ACTN3 genotype with muscle power during 30-s Wingate cycling in 120 moderately to well-trained men and women and with knee extensor strength and fatigability in a subset of 21 men performing isokinetic exercise. Muscle biopsies were obtained from the vastus lateralis muscle to determine fiber-type composition and ACTN2 and ACTN3 mRNA levels. Peak and mean power and the torque-velocity relationship and fatigability output showed no difference across ACTN3 genotypes. Thus this study suggests that R577X polymorphism in ACTN3 is not associated with differences in power output, fatigability, or force-velocity characteristics in moderately trained individuals. However, repeated exercise bouts prompted an increase in peak torque in RR but not in XX genotypes, suggesting that ACTN3 genotype may modulate responsiveness to training. Our data further suggest that α-actinins do not play a significant role in determining muscle fiber-type composition. Finally, we show that ACTN2 expression is affected by the content of α-actinin-3, which implies that α-actinin-2 may compensate for the lack of α-actinin-3 and hence counteract the phenotypic consequences of the deficiency.

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Zhang, Fan, Guangyan Mu, Zhiyan Liu, Qiufen Xie, Hanxu Zhang, Shuang Zhou, Zhe Wang, et al. "Genetic Polymorphisms Associated with Prothrombin Time and Activated Partial Thromboplastin Time in Chinese Healthy Population." Genes 13, no. 10 (October 15, 2022): 1867. http://dx.doi.org/10.3390/genes13101867.

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(1) Background: The purpose of this study was to evaluate the effect of gene polymorphisms on prothrombin time (PT) and activated partial thromboplastin time (APTT) in a healthy Chinese population. (2) Methods: A total of 403 healthy volunteers from a series of novel oral anticoagulants (NOACs) bioequivalence trials in China were included. Coagulation tests for PT and APTT were performed in the central lab at Peking University First Hospital. Whole-exome sequencing (WES) and genome-wide association analysis were performed. (3) Results: In the correlation analysis of PT, 105 SNPs from 84 genes reached the genome-wide significance threshold (p < 1 × 10−5). Zinc Finger Protein 594 (ZNF594) rs184838268 (p = 4.50 × 10−19) was most significantly related to PT, and Actinin Alpha 1 (ACTN1) was found to interact most with other candidate genes. Significant associations with previously reported candidate genes Aurora Kinase B (AURKB), Complement C5(C5), Clock Circadian Regulator (CLOCK), and Histone Deacetylase 9(HDAC9) were detected in our dataset (p < 1 × 10−5). PiggyBac Transposable Element Derived 2(PGBD2) rs75935520 (p = 4.49 × 10−6), Bromodomain Adjacent To Zinc Finger Domain 2A(BAZ2A) rs199970765 (p = 5.69 × 10−6) and Protogenin (PRTG) rs80064850 (p = 8.69 × 10−6) were significantly correlated with APTT (p < 1 × 10−5). The heritability values of PT and APTT were 0.83 and 0.64, respectively; (4) Conclusion: The PT and APTT of healthy populations are affected by genetic polymorphisms. ZNF594 and ACTN1 variants could be novel genetic markers of PT, while PRTG polymorphisms might be associated with APTT levels. The findings could be attributed to ethnic differences, and need further investigation.

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Elagib, Kamaleldin, Jeremy D. Rubinstein, Lorrie L. Delehanty, Peter A. Greer, Shuran Li, Jae K. Lee, Ivailo S. Mihaylov, Zhe Li, Stuart H. Orkin, and Adam Goldfarb. "Calpain Drives Megakaryopoiesis by Targeting the 7SK snRNP Complex: A Connection to Down Syndrome Megakaryocytic Neoplasia." Blood 118, no. 21 (November 18, 2011): 552. http://dx.doi.org/10.1182/blood.v118.21.552.552.

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Abstract Abstract 552 Megakaryocytic differentiation uniquely relies on a hypertrophic program involving massive cellular enlargement and nuclear polyploidization. A critical mechanism driving this program consists of global P-TEFb activation, a process involving the release of an active Cdk9-cyclin T kinase module from a larger, inactive 7SK snRNP complex. We previously implicated the protease complex calpain 2/S1 in P-TEFb activation during megakaryopoiesis and demonstrated a direct contribution of calpain activity to megakaryocytic differentiation (Elagib et al., ASH 2009). The clinical relevance of this pathway was suggested by findings in patient samples and knockin mice of defective calpain 2 upregulation in megakaryocytes bearing the leukemogenic GATA-1s mutant. Current studies address: 1) the mechanism by which calpain 2/S1 activates P-TEFb during normal megakaryopoiesis, 2) the genetic program controlled by P-TEFb during megakaryopoiesis, and 3) the relevance of calpain 2 deficiency to abnormal megakaryopoiesis associated with GATA-1s. Regarding the mechanism of P-TEFb activation by calpain, analysis of a P-TEFb interactome database identified an interaction of calpain S1 with the protein BCDIN3 (Jeronimo CD. et. al. Mol Cell 2007). BCDIN3 stabilizes the 7SK snRNA through capping activity, but also exerts enzyme-independent stabilization by forming a core complex with 7SK snRNA and the protein LARP7. This core complex provides the foundation for assembly of the 7SK snRNP involved in restraining P-TEFb activity. Using adult human CD34+ cells cultured in unilineage megakaryocytic medium, both BCDIN3 and LARP7 proteins were found to undergo dramatic downregulation during differentiation, leading to global destabilization of 7SK snRNA. By contrast, neither BCDIN3, LARP7, nor 7SK snRNA underwent downregulation during erythroid differentiation. Megakaryocytic downregulation of BCDIN3, but not LARP7, required calpain activity. Calpain inhibitors as well as shRNA knockdown of calpain 2 prevented BCDIN3 downregulation during megakaryocytic cultures. In vitro reactions with recombinant purified factors confirmed direct cleavage of BCDIN3 by calpain 2/S1. The role of BCDIN3 downregulation in megakaryopoiesis was assessed by shRNA knockdown experiments. Notably, enforcing downregulation of BCDIN3 in CD34+ cells in erythroid medium reprogrammed differentiation away from the erythroid lineage and toward the megakaryocytic lineage. Thus BCDIN3 is a critical target of calpain 2/S1 during megakaryocytic activation of P-TEFb. To identify P-TEFb target genes, a bioinformatic approach was used to screen megakaryocytic expression databases for genes coregulated with known P-TEFb targets, e.g. HEXIM1. This approach yielded a cohort of coregulated genes encoding actin associated factors: ACTN1, FLNA, TGFB1I1, and MKL1. Immunoblot analsysis validated that all four factors underwent concomitant upregulation during megakaryocytic but not erythroid differentiation. shRNA knockdowns of calpain 2 and Cdk9 confirmed that upregulation of these factors depended on calpain and P-TEFb activation. Previous studies have indicated a requirement for ACTN1 downregulation in cytokinesis. Thus, shRNA knockdowns determined whether ACTN1 upregulation contributed to megakaryocytic polyploidization. Strikingly, ACTN1 knockdown blocked the polyploidization of human CD34+ cells but allowed other features of megakaryocytic differentiation, e.g. CD41 upregulation. Thus, a key aspect of the genetic program controlled by P-TEFb in megakaryopoiesis consists of the upregulation of a cohort of actin-associated factors which contribute to a hypertrophic program of cellular enlargement and polyploidization. To address the role of calpain in the aberrant megakaryopoiesis associated with mutant GATA-1s, fetal liver (fl) cells from GATA-1s knockin (G1s ki) mice were studied. Previous studies have shown a hyperproliferative phenotype in G1s ki fl but not adult megakaryocytes. In the current study, enforced calpain 2 expression by lentiviral transduction reversed this phenotype and enhanced terminal differentiation, reflected by polyploidization and CD42 expression. Thus, the defective upregulation of calpain 2 in megakaryocytes with GATA-1s most likely plays a critical role in the abnormal megakaryopoiesis seen in Down syndrome-associated megakaryoctyic proliferative disorders. Disclosures: No relevant conflicts of interest to declare.

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Chaudhari, H. A., V. G. Antala, N. G. Radadiya, M. K. Mahatma, and R. S. Tomar. "Selection of suitable reference gene for gene expression studies during groundnut seed germination." Research Journal of Biotechnology 17, no. 2 (January 25, 2022): 64–71. http://dx.doi.org/10.25303/1702rjbt6471.

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Understanding the mechanism of seed germination requires a sturdy selection of reference genes for expression analysis using qRT-PCR. The accurate normalization of genes becomes necessary to circumvent erroneous result, as housekeeping genes does not remain stable over the different experimental condition in various tissue or species. Reliable and stable reference gene during ethrel induced germination of groundnut seeds is not reported yet. In this study, seven candidate reference genes were selected based on previous reports in groundnut under different experimental conditions. Seeds of NRCG 14380 (dormant) and TAG 24 (non-dormant) genotypes were treated with ethrel and sampled at 0, 6, 12 and 24 hours after incubation. The stability of reference genes such as actin1 (ACT1), actin11 (ACT11), alcohol dehydrogenase (ADH3), glyceraldehyde-3-phosphate dehydrogenase (GAPDH), glucose-6-phosphate dehydrogenase (G6PD), ubiquitin C (UBC) and α-Tubulin (TUA) was analyzed through a different statistical algorithm such as BestKeeper, NormFinder, geNorm and its consensus stability ranking was retrieved using RefFinder. Among all reference genes studied, ACT1 was found most stable reference gene in our study. Stability and reliability of ACT1 and ADH3 (most stable) reference genes were further validated through qRT- PCR with relative quantification of two germination related genes ACC oxidase1 (ACO1) and gibberellic acid regulated protein which showed consistency in their expression level. Our result revealed a stable reference gene that could be used as an internal control gene for gene expression study of ethrel treated groundnut seed germination.

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Lozano, Jonathan, Alin Rai, Jarmon G. Lees, Haoyun Fang, Bethany Claridge, Shiang Y. Lim, and David W. Greening. "Scalable Generation of Nanovesicles from Human-Induced Pluripotent Stem Cells for Cardiac Repair." International Journal of Molecular Sciences 23, no. 22 (November 18, 2022): 14334. http://dx.doi.org/10.3390/ijms232214334.

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Extracellular vesicles (EVs) from stem cells have shown significant therapeutic potential to repair injured cardiac tissues and regulate pathological fibrosis. However, scalable generation of stem cells and derived EVs for clinical utility remains a huge technical challenge. Here, we report a rapid size-based extrusion strategy to generate EV-like membranous nanovesicles (NVs) from easily sourced human iPSCs in large quantities (yield 900× natural EVs). NVs isolated using density-gradient separation (buoyant density 1.13 g/mL) are spherical in shape and morphologically intact and readily internalised by human cardiomyocytes, primary cardiac fibroblasts, and endothelial cells. NVs captured the dynamic proteome of parental cells and include pluripotency markers (LIN28A, OCT4) and regulators of cardiac repair processes, including tissue repair (GJA1, HSP20/27/70, HMGB1), wound healing (FLNA, MYH9, ACTC1, ILK), stress response/translation initiation (eIF2S1/S2/S3/B4), hypoxia response (HMOX2, HSP90, GNB1), and extracellular matrix organization (ITGA6, MFGE8, ITGB1). Functionally, NVs significantly promoted tubule formation of endothelial cells (angiogenesis) (p < 0.05) and survival of cardiomyocytes exposed to low oxygen conditions (hypoxia) (p < 0.0001), as well as attenuated TGF-β mediated activation of cardiac fibroblasts (p < 0.0001). Quantitative proteome profiling of target cell proteome following NV treatments revealed upregulation of angiogenic proteins (MFGE8, MYH10, VDAC2) in endothelial cells and pro-survival proteins (CNN2, THBS1, IGF2R) in cardiomyocytes. In contrast, NVs attenuated TGF-β-driven extracellular matrix remodelling capacity in cardiac fibroblasts (ACTN1, COL1A1/2/4A2/12A1, ITGA1/11, THBS1). This study presents a scalable approach to generating functional NVs for cardiac repair.

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Faleschini, Michela, Federica Melazzini, Caterina Marconi, Tania Giangregorio, Tommaso Pippucci, Elena Cigalini, Alessandro Pecci, et al. "ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia." British Journal of Haematology 183, no. 2 (October 2018): 276–88. http://dx.doi.org/10.1111/bjh.15531.

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Cao, Yue, Wangjia Cao, Yangmin Qiu, Yuxin Zhou, Qinglong Guo, Yuan Gao, and Na Lu. "Oroxylin A suppresses ACTN1 expression to inactivate cancer-associated fibroblasts and restrain breast cancer metastasis." Pharmacological Research 159 (September 2020): 104981. http://dx.doi.org/10.1016/j.phrs.2020.104981.

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Khurana, Simran, Sharmistha Chakraborty, Xuan Zhao, Yu Liu, Dongyin Guan, Minh Lam, Wei Huang, Sichun Yang, and Hung-Ying Kao. "Identification of a Novel LXXLL Motif in α-Actinin 4-spliced Isoform That Is Critical for Its Interaction with Estrogen Receptor α and Co-activators." Journal of Biological Chemistry 287, no. 42 (August 20, 2012): 35418–29. http://dx.doi.org/10.1074/jbc.m112.401364.

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α-Actinins (ACTNs) are a family of proteins cross-linking actin filaments that maintain cytoskeletal organization and cell motility. Recently, it has also become clear that ACTN4 can function in the nucleus. In this report, we found that ACTN4 (full length) and its spliced isoform ACTN4 (Iso) possess an unusual LXXLL nuclear receptor interacting motif. Both ACTN4 (full length) and ACTN4 (Iso) potentiate basal transcription activity and directly interact with estrogen receptor α, although ACTN4 (Iso) binds ERα more strongly. We have also found that both ACTN4 (full length) and ACTN4 (Iso) interact with the ligand-independent and the ligand-dependent activation domains of estrogen receptor α. Although ACTN4 (Iso) interacts efficiently with transcriptional co-activators such as p300/CBP-associated factor (PCAF) and steroid receptor co-activator 1 (SRC-1), the full length ACTN4 protein either does not or does so weakly. More importantly, the flanking sequences of the LXXLL motif are important not only for interacting with nuclear receptors but also for the association with co-activators. Taken together, we have identified a novel extended LXXLL motif that is critical for interactions with both receptors and co-activators. This motif functions more efficiently in a spliced isoform of ACTN4 than it does in the full-length protein.

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Jo, Hae-Won, Kyung-Hee Lee, and Jeong-Hee Kim. "Preparation and Evaluation of the Effect of Acetyl Hexapeptide-8 Ampoule for Scalp Treatment." Asian Journal of Beauty and Cosmetology 19, no. 3 (September 30, 2021): 435–44. http://dx.doi.org/10.20402/ajbc.2021.0199.

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Purpose: The topical application of scalp-care cosmetics, infused with functional ingredients, can offer an optimal cosmetic approach to prevent problems associated with aging. In terms of the development of anti-aging cosmetics, we studied the use of acetyl hexapeptide-8 (AH-8) for improving elasticity of the scalp.Methods: Ampoules containing 3% and 5% concentrations of AH-8 as an active ingredient were prepared and their safety and efficacy were evaluated. HaCaT cells were used to evaluate the safety of AH-8 ampoules by measurement of in vitro cytotoxicity. In in vivo experiments, we tested the AH-8 ampoules by cumulative irritation test (CIT) on healthy adults, 20–50 years of age. Relative expressions of superoxide dismutase 2 (SOD2), forkhead box O1 (FOXO1), actinin alpha 1 (ACTN1), collagen type XVII alpha 1 chain (COL17A1), and integrin subunit beta 4 (ITGB4) were assessed using quantitative real-time PCR (Q-PCR).Results: AH-8 ampoules showed significant cytotoxicity to HaCaT cells in a dose-dependent manner. CIT assessment in 30 adults revealed no skin reactions to both 3% and 5% AH-8 ampoules. After treatment of HaCaT cells with the AH-8 ampoules, mRNA levels of SOD2 and FOXO1, which are directly implicated as antioxidant factors, were increased. Of the factors that improve elasticity, ACTN1 mRNA levels had the greatest increase when treated with the 5% AH-8 ampoules (1.75 µg/mL). Also, the AH-8 ampoules increased mRNA levels of COL17A1, and ITGB4 in HaCaT cells.Conclusions: In this study, we proved that 3% and 5% AH-8 ampoules are safe for use as a scalp-care cosmetic. AH-8 ampoule had efficacy in anti-aging and improving elasticity of the scalp. This comprehensive test showed that AH-8 can be developed as a cosmetic for anti-aging and improvement of scalp elasticity.

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Massidda, Myosotis, Laura Corrias, Marco Scorcu, Giuseppe Vona, and Maria Carla Calò. "ACTN-3 and ACE genotypes in elite male Italian athletes." Anthropological Review 75, no. 1 (January 1, 2012): 51–59. http://dx.doi.org/10.2478/v10044-012-0004-4.

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Abstract The ACE I/D and the ACTN-3 R577X polymorphisms are the most studied genes associated with elite athlete status, even if this association has been often conflicting. The aim of the present study was to investigate the association between the ACE and the ACTN3 genotypes and elite performance in Italian male athletes. The ACTN-3 R577X and the ACE I/D genotype distributions of 59 elite male Italian athletes practicing gymnastics (G; n = 17), 100 m-400 m running (R; n = 12), and playing soccer (S; n= 30) were compared with controls from Italian (C; n = 31) populations. For ACE distribution, athletes did not differ from controls (G, χ2 = 0.37, df = 2, p = 0.82; R, χ2 = 1.90, df = 2, p = 0.45; S, χ2 = 1.48, df = 2, p = 0.47) and the DD genotype was at very high frequency in all groups (G = 53%, R= 50%, S = 60%, C = 45%). For ACTN-3 distribution, elite gymnasts showed a significant difference from controls (χ2 = 6.57, df = 2, p = 0.03), showing an absence of XX genotype. Soccer players and runners did not differ from controls in ACTN-3 genotype distribution (R, χ2 =0.43, df = 2, p = 0.80; S, χ2 = 1.25, df = 2, p = 0.53). Even if the ACE DD genotype is often positively associated with elite sprint/power athlete status, its high frequency in Italian populations eliminates the possibility of its exclusive association in Italian athletes. The results of ACTN3 genotypes suggest that RR genotype of ACTN-3 gene is a determinant of elite gymnasts status but it is not the key factor for achieving a top-level performance in soccer or track events.

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Kubin, Thomas, Ayse Cetinkaya, Natalia Kubin, Peter Bramlage, Bedriye Sen-Hild, Praveen Gajawada, Hakan Akintürk, et al. "The MEK/ERK Module Is Reprogrammed in Remodeling Adult Cardiomyocytes." International Journal of Molecular Sciences 21, no. 17 (September 1, 2020): 6348. http://dx.doi.org/10.3390/ijms21176348.

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Fetal and hypertrophic remodeling are hallmarks of cardiac restructuring leading chronically to heart failure. Since the Ras/Raf/MEK/ERK cascade (MAPK) is involved in the development of heart failure, we hypothesized, first, that fetal remodeling is different from hypertrophy and, second, that remodeling of the MAPK occurs. To test our hypothesis, we analyzed models of cultured adult rat cardiomyocytes as well as investigated myocytes in the failing human myocardium by western blot and confocal microscopy. Fetal remodeling was induced through endothelial morphogens and monitored by the reexpression of Acta2, Actn1, and Actb. Serum-induced hypertrophy was determined by increased surface size and protein content of cardiomyocytes. Serum and morphogens caused reprogramming of Ras/Raf/MEK/ERK. In both models H-Ras, N-Ras, Rap2, B- and C-Raf, MEK1/2 as well as ERK1/2 increased while K-Ras was downregulated. Atrophy, MAPK-dependent ischemic resistance, loss of A-Raf, and reexpression of Rap1 and Erk3 highlighted fetal remodeling, while A-Raf accumulation marked hypertrophy. The knock-down of B-Raf by siRNA reduced MAPK activation and fetal reprogramming. In conclusion, we demonstrate that fetal and hypertrophic remodeling are independent processes and involve reprogramming of the MAPK.

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O’Sullivan, Leanne R., Mary R. Cahill, and Paul W. Young. "The Importance of Alpha-Actinin Proteins in Platelet Formation and Function, and Their Causative Role in Congenital Macrothrombocytopenia." International Journal of Molecular Sciences 22, no. 17 (August 29, 2021): 9363. http://dx.doi.org/10.3390/ijms22179363.

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The actin cytoskeleton plays a central role in platelet formation and function. Alpha-actinins (actinins) are actin filament crosslinking proteins that are prominently expressed in platelets and have been studied in relation to their role in platelet activation since the 1970s. However, within the past decade, several groups have described mutations in ACTN1/actinin-1 that cause congenital macrothrombocytopenia (CMTP)—accounting for approximately 5% of all cases of this condition. These findings are suggestive of potentially novel functions for actinins in platelet formation from megakaryocytes in the bone marrow and/or platelet maturation in circulation. Here, we review some recent insights into the well-known functions of actinins in platelet activation before considering possible roles for actinins in platelet formation that could explain their association with CMTP. We describe what is known about the consequences of CMTP-linked mutations on actinin-1 function at a molecular and cellular level and speculate how these changes might lead to the alterations in platelet count and morphology observed in CMTP patients. Finally, we outline some unanswered questions in this area and how they might be addressed in future studies.

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Nakashima, Yoshiki, Saifun Nahar, Chika Miyagi-Shiohira, Takao Kinjo, Naoya Kobayashi, Shinji Kitamura, Issei Saitoh, Masami Watanabe, Jiro Fujita, and Hirofumi Noguchi. "Identification of Proteins Differentially Expressed by Adipose-derived Mesenchymal Stem Cells Isolated from Immunodeficient Mice." International Journal of Molecular Sciences 20, no. 11 (May 30, 2019): 2672. http://dx.doi.org/10.3390/ijms20112672.

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Although cell therapy using adipose-derived mesenchymal stem cells (AdMSCs) regulates immunity, the degree to which cell quality and function are affected by differences in immunodeficiency of donors is unknown. We used liquid chromatography tandem-mass spectrometry (LC MS/MS) to identify the proteins expressed by mouse AdMSCs (mAsMSCs) isolated from normal (C57BL/6) mice and mice with severe combined immunodeficiency (SCID). The protein expression profiles of each strain were 98%–100% identical, indicating that the expression levels of major proteins potentially associated with the therapeutic effects of mAdMSCs were highly similar. Further, comparable levels of cell surface markers (CD44, CD90.2) were detected using flow cytometry or LC MS/MS. MYH9, ACTN1, CANX, GPI, TPM1, EPRS, ITGB1, ANXA3, CNN2, MAPK1, PSME2, CTPS1, OTUB1, PSMB6, HMGB1, RPS19, SEC61A1, CTNNB1, GLO1, RPL22, PSMA2, SYNCRIP, PRDX3, SAMHD1, TCAF2, MAPK3, RPS24, and MYO1E, which are associated with immunity, were expressed at higher levels by the SCID mAdMSCs compared with the C57BL/6 mAdMSCs. In contrast, ANXA9, PCBP2, LGALS3, PPP1R14B, and PSMA6, which are also associated with immunity, were more highly expressed by C57BL/6 mAdMSCs than SCID mAdMSCs. These findings implicate these two sets of proteins in the pathogenesis and maintenance of immunodeficiency.

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Zhang, Lina, and Yucheng Qian. "An epithelial–mesenchymal transition-related prognostic model for colorectal cancer based on weighted gene co-expression network analysis." Journal of International Medical Research 50, no. 12 (December 2022): 030006052211406. http://dx.doi.org/10.1177/03000605221140683.

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Objective To identify susceptibility modules and genes for colorectal cancer (CRC) using weighted gene co-expression network analysis (WGCNA). Methods Four microarray datasets were downloaded from the Gene Expression Omnibus database. We divided the tumor samples into three subgroups based on consensus clustering of gene expression, and analyzed the correlations between the subgroups and clinical features. The genetic features of the subgroups were investigated by gene set enrichment analysis (GSEA). A gene expression network was constructed using WGCNA, and a protein–protein interaction (PPI) network was used to identify the key genes. Gene modules were annotated by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses. Results We divided the cancer cases into three subgroups based on consensus clustering (subgroups I, II, III). The green module identified by WGCNA was correlated with clinical characteristics. Ten key genes were identified according to their degree of connectivity in the protein–protein interaction network: FYN, SEMA3A, AP2M1, L1CAM, NRP1, TLN1, VWF, ITGB3, ILK, and ACTN1. Conclusion We identified 10 hub genes as candidate biomarkers for CRC. These key genes may provide a theoretical basis for targeted therapy against CRC.

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Camilo, Danieli Amorim, Leonardo Emmanuel de Medeiros Lima, Gildiney Penaves de Alencar, Raphael de Souza Cosmo, Diego Duarte Marques de Oliveira, Rodrigo Pereira da Silva, Dilmar Pinto Guedes Junior, Aylton Figueira Junior, José Garcia de Brito-Neto, and Roberto Moriggi Junior. "Análise do gene ACTN3 na prática esportiva de alto rendimento: uma revisão narrativa." Research, Society and Development 10, no. 14 (November 13, 2021): e519101422235. http://dx.doi.org/10.33448/rsd-v10i14.22235.

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Objetivo: Analisar o gene ACTN3 na prática esportiva de alto rendimento, bem como verificar a relação com o desempenho na modalidade específica e a influência do gene ACTN-3 sobre a caracterização das fibras musculares. Metodologia: Trata-se de um estudo de revisão narrativa da literatura, que analisou artigos publicados em língua portuguesa e/ou inglesa, entre os anos 1995 e 2020, encontrados na plataforma de pesquisa Google Acadêmico, selecionados a partir das palavras-chave, sinônimos e descritores “genética”, “polimorfismo”, “performance” e “actn3”. Foram incluídos estudos com texto completo disponível em meio online, de forma gratuita, que forneciam informações sobre genética humana, o polimorfismo do gene ACTN3, a influência da genética no desempenho esportivo e os tipos de fibras musculares e sua intervenção no esporte, totalizando 41 artigos. Resultados: A análise resultou numa categorização, separada por cinco temáticas que devem ser consideradas dentro da prescrição e prática esportiva de alto rendimento: a) Individualidade biológica: genética no esporte; b) Actina; c) Polimorfismo genético; d) Genótipo ACTN3 RR, XX, RX; e) O polimorfismo R577X do gene ACTN3: relação da genética com o tipo de fibra muscular. Considerações Finais: A expressão do gene ACTN3 favorece o desempenho esportivo de atletas que exercem força/velocidade. Pessoas com o genótipo mutante possuem maior desempenho quando se trata de esportes de resistência aeróbia. Dessa forma, além dos fatores intrínsecos, os fatores extrínsecos precisam ser constantemente manipulados, como o treinamento adequado, rotina de descanso e alimentação, indispensáveis para uma boa performance.

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Nagaya, Masaya, Fumito Kanada, Masaru Takashima, Yoshihiro Takamura, Masaru Inatani, and Masaya Oki. "Atm inhibition decreases lens opacity in a rat model of galactose-induced cataract." PLOS ONE 17, no. 9 (September 23, 2022): e0274735. http://dx.doi.org/10.1371/journal.pone.0274735.

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Cataract causes vision loss and blindness due to formation of opacities of the lens. The regulatory mechanisms of cataract formation and progression remain unclear, and no effective drug treatments are clinically available. In the present study, we tested the effect of ataxia telangiectasia mutated (Atm) inhibitors using an ex vivo model in which rat lenses were cultured in galactose-containing medium to induce opacity formation. After lens opacities were induced by galactose, the lenses were further incubated with the Atm inhibitors AZD0156 or KU55933, which decreased lens opacity. Subsequently, we used microarray analysis to investigate the underlying molecular mechanisms of action, and extracted genes that were upregulated by galactose-induced opacity, but not by inhibitor treatment. Quantitative measurement of mRNA levels and subsequent STRING analysis revealed that a functional network consisting primarily of actin family and actin-binding proteins was upregulated by galactose treatment and downregulated by both Atm inhibitors. In particular, Acta2 is a known marker of epithelial-mesenchymal transition (EMT) in epithelial cells, and other genes connected in this functional network (Actn1, Tagln, Thbs1, and Angptl4) also suggested involvement of EMT. Abnormal differentiation of lens epithelial cells via EMT could contribute to formation of opacities; therefore, suppression of these genes by Atm inhibition is a potential therapeutic target for reducing opacities and alleviating cataract-related visual impairment.

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Shi, Tianpei, Wenping Hu, Haobin Hou, Zhida Zhao, Mingyu Shang, and Li Zhang. "Identification and Comparative Analysis of Long Non-Coding RNA in the Skeletal Muscle of Two Dezhou Donkey Strains." Genes 11, no. 5 (May 4, 2020): 508. http://dx.doi.org/10.3390/genes11050508.

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Long non-coding RNA (lncRNA) has been extensively studied in many livestock. However, compared with other livestock breeds, there is less research regarding donkey lncRNA function. It has been reported that lncRNA plays an important role in the timing control of development, aging, and death of livestock. Therefore, the study of donkey skeletal muscle lncRNA is of great significance for exploring donkey meat production performance. In this study, RNA-Seq was used to perform high-throughput sequencing of skeletal muscle (longissimus dorsi and gluteus) of two Dezhou donkey strains (SanFen and WuTou). The differentially expressed lncRNAs were screened between different strains and tissues. Then candidate genes for conjoint analysis were screened based on Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis. Finally, the accuracy of the sequencing data was verified by real-time quantitative polymerase chain reaction (RT-qPCR). Herein, we identified 3869 novel lncRNAs and 73 differentially expressed lncRNAs. Through the comparison between groups, the specific expression of lncRNAs were found in different strains and muscle tissues. Importantly, we constructed the lncRNA-miRNA-mRNA interaction network and found three important candidate lncRNAs (MSTRG.9787.1, MSTRG.3144.1, and MSTRG.9886.1) and four candidate genes (ACTN1, CDON, FMOD, and BMPR1B). Analysis of the KEGG pathway indicates that the TGF-β signaling pathway plays a pivotal role in the growth and development of skeletal muscle in Dezhou donkey strains.

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Yu, Weijuan, Weihua Wang, and Xiumei Yu. "Investigation of lncRNA-mRNA co-expression network in ETV6-RUNX1-positive pediatric B-cell acute lymphoblastic leukemia." PLOS ONE 16, no. 6 (June 8, 2021): e0253012. http://dx.doi.org/10.1371/journal.pone.0253012.

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ETV6/RUNX1 gene fusion is the most common chromosomal translocation abnormality occurred in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Compared with ETV6-RUNX1-negative patients, ETV6-RUNX1-positive patients possess more improved treatment strategies but higher risk to relapse. In this research, the potential gene interaction networks were constructed intending for elucidating the pathogenesis of B-ALL. We performed the weighted gene co-expression network analysis (WGCNA) to assess the involvement of lncRNA-mRNA pairs in B-ALL patients consisting of 24 ETV6-RUNX1-positive patients and 18 ETV6-RUNX1-negative patients and found a module that was significantly associated with positive/negative trait. Gene Ontology analysis showed that mRNAs in this module were enriched in the positive regulation of MAPK cascade, positive regulation of JNK cascade, and myeloid cell differentiation pathway. To further investigate the relationship between lncRNAs and mRNAs in this significant module, we constructed the lncRNA-mRNA co-expression network. 3 lncRNAs (RP11-170J3.2, RP11-135F9.1 and RP1-151B14.9) were found at the core of the lncRNA-mRNA co-expression network, which had the most co-expression connections with mRNAs. And several related mRNAs (ACTN1, TNFRSF21 and NLRP3) had a significant correlation with the patient survival prediction. Our findings may explicate the pathogenesis of B-ALL, and the disease-associated genes could provide clues to find novel biomarkers for prognosis.

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Guéguen, Paul, Karen Rouault, Jian-Min Chen, Odile Raguénès, Yann Fichou, Elisabeth Hardy, Eric Gobin, et al. "A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family." PLoS ONE 8, no. 9 (September 17, 2013): e74728. http://dx.doi.org/10.1371/journal.pone.0074728.

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Calaway, John D., José Ignacio Domínguez, Megan E. Hanson, Ezequiel C. Cambranis, Fernando Pardo-Manuel de Villena, and Elena de la Casa-Esperon. "Intronic Parent-of-Origin Dependent Differential Methylation at the Actn1 Gene Is Conserved in Rodents but Is Not Associated with Imprinted Expression." PLoS ONE 7, no. 11 (November 8, 2012): e48936. http://dx.doi.org/10.1371/journal.pone.0048936.

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Kanhai, Danny, René Mulder, Hans Kristian Ploos van Amstel, Roger Schutgens, Michael Lukens, and Rienk Y. J. Tamminga. "Familial macrothrombocytopenia due to a double mutationin cisin the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura." Pediatric Blood & Cancer 65, no. 12 (August 19, 2018): e27418. http://dx.doi.org/10.1002/pbc.27418.

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Chung, Ki Yong, Eun Mi Lee, Eung Gi Kwon, Man Hi Han, Sara Heras-Saldana, and Cedric Gondro. "PSVIII-11 Transcriptome profiling of bovine satellite cell differentiation in Hanwoo longissimus dorsi and semimembranosus muscle." Journal of Animal Science 97, Supplement_3 (December 2019): 306. http://dx.doi.org/10.1093/jas/skz258.618.

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Abstract Hanwoo, Korean native cattle, have been known for high intramuscular adipose tissue compare to other beef cattle. Bovine satellite cells (BSC) of longissimus dorsi (LD) and semimembranosus (SM) tissues differentiated from myoblast into multinucleated myotubes has different characteristics under cell culture system. Differentially expressed genes (DEG) of the two muscle tissues were compared based on 24, 48, 96, and 168 hours. Difference in the index between LD and SM BSC at each time point were tested with an analysis of variance for a model fitting time (day), tissue and the interaction between time and tissue. P-values < 0.05 were considered significantly different. There were 640 genes difference in 4 Day with the lowest DEG, 442 in Up and 198 in Down. There were 2,755 genes difference in 7 Day and 879 genes in Up and 1876 genes in Down. The differential expression of actin alpha 1 (ACTA1), actin alpha cardiac muscle 1 (ACTC1), matrix metallopeptidase 2 (MMP2), and myosin light chain phosphorylated fast skeletal muscle (MYLPF) genes (P < 0.05) were involved in the differentiation of SM greater than those of LD muscle. However, we found the same pattern in the transcription levels of myogenine (MYOG), myogenic differentiation 1(MYOD), and myogenic regulatory factors 6 (MYF6) for both muscles. There were more difference in the enriched Gene ontology terms cell cycle, proliferation and G2/M transition of mitotic during the end of proliferation compare to myoblast differentiation. Our finding provide evidence that the differential expression in of ACTA1, ACTC1, MMP2, and MYLPF genes could be involved in the differentiation of LD and SM muscles. This data indicated that the origin of the BSC were epigenetically improved during the myogenic development of LD and SM

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Matsumoto, Mizuki, Hirofumi Tsuru, Hidehiro Suginobe, Jun Narita, Ryo Ishii, Masaki Hirose, Kazuhisa Hashimoto, et al. "Atomic force microscopy identifies the alteration of rheological properties of the cardiac fibroblasts in idiopathic restrictive cardiomyopathy." PLOS ONE 17, no. 9 (September 29, 2022): e0275296. http://dx.doi.org/10.1371/journal.pone.0275296.

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Restrictive cardiomyopathy (RCM) is a rare disease characterized by increased ventricular stiffness and preserved ventricular contraction. Various sarcomere gene variants are known to cause RCM; however, more than a half of patients do not harbor such pathogenic variants. We recently demonstrated that cardiac fibroblasts (CFs) play important roles in inhibiting the diastolic function of cardiomyocytes via humoral factors and direct cell–cell contact regardless of sarcomere gene mutations. However, the mechanical properties of CFs that are crucial for intercellular communication and the cardiomyocyte microenvironment remain less understood. In this study, we evaluated the rheological properties of CFs derived from pediatric patients with RCM and healthy control CFs via atomic force microscopy. Then, we estimated the cellular modulus scale factor related to the cell stiffness, fluidity, and Newtonian viscosity of single cells based on the single power-law rheology model and analyzed the comprehensive gene expression profiles via RNA-sequencing. RCM-derived CFs showed significantly higher stiffness and viscosity and lower fluidity compared to healthy control CFs. Furthermore, RNA-sequencing revealed that the signaling pathways associated with cytoskeleton elements were affected in RCM CFs; specifically, cytoskeletal actin-associated genes (ACTN1, ACTA2, and PALLD) were highly expressed in RCM CFs, whereas several tubulin genes (TUBB3, TUBB, TUBA1C, and TUBA1B) were down-regulated. These results implies that the signaling pathways associated with cytoskeletal elements alter the rheological properties of RCM CFs, particularly those related to CF–cardiomyocyte interactions, thereby leading to diastolic cardiac dysfunction in RCM.

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Zhou, Huandi, Zhifen Yang, Lin Mu, and Yonghong Shi. "Integrated Analysis of Multiple Microarray Studies to Identify Core Gene-Expression Signatures Involved in Tubulointerstitial Injury in Diabetic Nephropathy." BioMed Research International 2022 (May 10, 2022): 1–20. http://dx.doi.org/10.1155/2022/9554658.

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Diabetic nephropathy is a leading cause of end-stage renal disease in both developed and developing countries. It is lack of specific diagnosis, and the pathogenesis remains unclarified in diabetic nephropathy, following the unsatisfactory effects of existing treatments. Therefore, it is very meaningful to find biomarkers with high specificity and potential targets. Two datasets, GSE30529 and GSE47184 from GEO based on diabetic nephropathy tubular samples, were downloaded and merged after batch effect removal. A total of 545 different expression genes screened with log 2 FC > 0.5 were weighted gene coexpression correlation network analysis, and green module and blue module were identified. The results of KEGG analyses both in green module and GSEA analysis showed the same two enriched pathway, focal adhesion and viral myocarditis. Based on the intersection among WGCNA focal adhesion/Viral myocarditis, GSEA focal adhesion/viral myocarditis, and PPI network, 17 core genes, ACTN1, CAV1, PRKCB, PDGFRA, COL1A2, COL6A3, RHOA, VWF, FN1, HLA-F, HLA-DPB1, ITGB2, HLA-DRA, HLA-DMA, HLA-DPA1, HLA-B, and HLA-DMB, were identified as potential biomarkers in diabetic tubulointerstitial injury and were further validated externally for expression at GSE99325 and GSE104954 and clinical feature at nephroseq V5 online platform. CMap analysis suggested that two compounds, LY-294002 and bufexamac, may be new insights for therapeutics of diabetic tubulointerstitial injury. Conclusively, it was raised that a series of core genes may be as potential biomarkers for diagnosis and two prospective compounds.

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Li, Jin, Feng Chen, Qiushi Zhang, Xianglian Meng, Xiaohui Yao, Shannon L. Risacher, Jingwen Yan, Andrew J. Saykin, Hong Liang, and Li Shen. "Genome-wide Network-assisted Association and Enrichment Study of Amyloid Imaging Phenotype in Alzheimer’s Disease." Current Alzheimer Research 16, no. 13 (January 10, 2020): 1163–74. http://dx.doi.org/10.2174/1567205016666191121142558.

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Background: The etiology of Alzheimer’s disease remains poorly understood at the mechanistic level, and genome-wide network-based genetics have the potential to provide new insights into the disease mechanisms. Objective: The study aimed to explore the collective effects of multiple genetic association signals on an AV-45 PET measure, which is a well-known Alzheimer’s disease biomarker, by employing a networ kassisted strategy. Method: First, we took advantage of a dense module search algorithm to identify modules enriched by genetic association signals in a protein-protein interaction network. Next, we performed statistical evaluation to the modules identified by dense module search, including a normalization process to adjust the topological bias in the network, a replication test to ensure the modules were not found randomly , and a permutation test to evaluate unbiased associations between the modules and amyloid imaging phenotype. Finally, topological analysis, module similarity tests and functional enrichment analysis were performed for the identified modules. Results: We identified 24 consensus modules enriched by robust genetic signals in a genome-wide association analysis. The results not only validated several previously reported AD genes (APOE, APP, TOMM40, DDAH1, PARK2, ATP5C1, PVRL2, ELAVL1, ACTN1 and NRF1), but also nominated a few novel genes (ABL1, ABLIM2) that have not been studied in Alzheimer’s disease but have shown associations with other neurodegenerative diseases. Conclusion: The identified genes, consensus modules and enriched pathways may provide important clues to future research on the neurobiology of Alzheimer’s disease and suggest potential therapeutic targets.

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Andres, Oliver, Eva-Maria König, Karina Althaus, Tamam Bakchoul, Peter Bugert, Stefan Eber, Ralf Knöfler, et al. "Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder." TH Open 02, no. 04 (October 2018): e445-e454. http://dx.doi.org/10.1055/s-0038-1676813.

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AbstractInherited platelet disorders (IPD) form a rare and heterogeneous disease entity that is present in about 8% of patients with non-acquired bleeding diathesis. Identification of the defective cellular pathway is an important criterion for stratifying the patient's individual risk profile and for choosing personalized therapeutic options. While costs of high-throughput sequencing technologies have rapidly declined over the last decade, molecular genetic diagnosis of bleeding and platelet disorders is getting more and more suitable within the diagnostic algorithms. In this study, we developed, verified, and evaluated a targeted, panel-based next-generation sequencing approach comprising 59 genes associated with IPD for a cohort of 38 patients with a history of recurrent bleeding episodes and functionally suspected, but so far genetically undefined IPD. DNA samples from five patients with genetically defined IPD with disease-causing variants in WAS, RBM8A, FERMT3, P2YR12, and MYH9 served as controls during the validation process. In 40% of 35 patients analyzed, we were able to finally detect 15 variants, eight of which were novel, in 11 genes, ACTN1, AP3B1, GFI1B, HPS1, HPS4, HPS6, MPL, MYH9, TBXA2R, TPM4, and TUBB1, and classified them according to current guidelines. Apart from seven variants of uncertain significance in 11% of patients, nine variants were classified as likely pathogenic or pathogenic providing a molecular diagnosis for 26% of patients. This report also emphasizes on potentials and pitfalls of this tool and prospectively proposes its rational implementation within the diagnostic algorithms of IPD.

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Mrozikiewicz-Rakowska, Beata, Ilona Szabłowska-Gadomska, Dominik Cysewski, Stefan Rudziński, Rafał Płoski, Piotr Gasperowicz, Magdalena Konarzewska, et al. "Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer Treatment: Clinical Effectiveness, Safety, Survival in the Wound Site, and Proteomic Impact." International Journal of Molecular Sciences 24, no. 2 (January 12, 2023): 1472. http://dx.doi.org/10.3390/ijms24021472.

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Although encouraging results of adipose-derived stem cell (ADSC) use in wound healing are available, the mechanism of action has been studied mainly in vitro and in animals. This work aimed to examine the safety and efficacy of allogenic ADSCs in human diabetic foot ulcer treatment, in combination with the analyses of the wound. Equal groups of 23 participants each received fibrin gel with ADSCs or fibrin gel alone. The clinical effects were assessed at four time points: days 7, 14, 21 and 49. Material collected during debridement from a subset of each group was analyzed for the presence of ADSC donor DNA and proteomic changes. The reduction in wound size was greater at all subsequent visits, significantly on day 21 and 49, and the time to 50% reduction in the wound size was significantly shorter in patients who received ADSCs. Complete healing was achieved at the end of the study in seven patients treated with ADSCs vs. one treated without ADSCs. One week after ADSC application, 34 proteins significantly differentiated the material from both groups, seven of which, i.e., GAPDH, CAT, ACTN1, KRT1, KRT9, SCL4A1, and TPI, positively correlated with the healing rate. We detected ADSC donor DNA up to 21 days after administration. We confirmed ADSC-related improvement in wound healing that correlated with the molecular background, which provides insights into the role of ADSCs in wound healing—a step toward the development of cell-based therapies.

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Liu, Siyu, Chenyang Hu, Yueqiu Luo, and Ke Yao. "Genome-wide DNA methylation profiles may reveal new possible epigenetic pathogenesis of sporadic congenital cataract." Epigenomics 12, no. 9 (May 2020): 771–88. http://dx.doi.org/10.2217/epi-2019-0254.

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Aim: To investigate the possible epigenetic pathogenesis of sporadic congenital cataract. Materials & methods: We conducted whole genome bisulfite sequencing on peripheral blood from sporadic binocular or monocular congenital cataract patients and cataract-free participants. Results: We found massive differentially methylated regions within the whole genomes between any two groups. Meanwhile, we identified five genes ( ACTN4, ACTG1, TUBA1A, TUBA1C, TUBB4B) for the binocular and control groups and TUBA1A for the monocular and control groups as the core differentially methylated region-related genes. The proteins encoded by these core genes are involved in building cytoskeleton and intercellular junctions. Conclusion: Changes in the methylation levels of core genes may disturb the function of cytoskeleton and intercellular junctions, eventually leading to sporadic congenital cataract.

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Harada, Nagakatsu, Yuka Gotoda, Adzumi Hatakeyama, Tadahiko Nakagawa, Yumiko Miyatake, Masashi Kuroda, Saeko Masumoto, Rie Tsutsumi, Yutaka Nakaya, and Hiroshi Sakaue. "Differential regulation of Actn2 and Actn3 expression during unfolded protein response in C2C12 myotubes." Journal of Muscle Research and Cell Motility 41, no. 2-3 (May 25, 2020): 199–209. http://dx.doi.org/10.1007/s10974-020-09582-7.

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Cui, Zekai, Qiaolang Zeng, Yonglong Guo, Shiwei Liu, and Jiansu Chen. "Integrated bioinformatic changes and analysis of retina with time in diabetic rats." PeerJ 6 (May 16, 2018): e4762. http://dx.doi.org/10.7717/peerj.4762.

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Diabetic retinopathy (DR) is the most common chronic complication of diabetes. It can cause impaired vision and even blindness. However, the pathological mechanism of DR is still unknown. In the present study, we use bioinformatic analysis to reveal the pathological changes of early DR in a streptozotocin (STZ) induced diabetes rat model. The dataset GSE28831 was downloaded from the Gene Expression Omnibus (GEO) database. To clarify the pathological mechanism of early DR, genes which were up-regulated (UP group) or down-regulated (DOWN group) over time were identified. One hundred eighty six genes in the UP group and 85 genes in the DOWN group were defined. There were in total 28 Gene ontology (GO) terms with a P value lower than 0.05 in UP group, including astrocyte development, neutrophil chemotaxis, neutrophil aggregation, mesenchymal cell proliferation and so on. In the DOWN group, there were totally 14 GO terms with a P value lower than 0.05, including visual perception, lens development in camera-type eye, camera-type eye development, bicellular tight junction and so on. Signaling pathways were analyzed with all genes in the UP and DOWN groups, and leukocyte transendothelial migration and tight junction were selected. Protein–protein interaction (PPI) network was constructed and six hub genes Diras3, Actn1, Tssk6, Cnot6l, Tek and Fgf4 were selected with connection degree ≥5. S100a8, S100a9 and Tek may be potential targets for DR diagnosis and treatment. This study provides the basis for the diagnosis and treatment of DR in the future.

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Gupta, Anamika, Mohit Bansal, Rohana Liyanage, Abhinav Upadhyay, Narayan Rath, Annie Donoghue, and Xiaolun Sun. "Sodium butyrate modulates chicken macrophage proteins essential for Salmonella Enteritidis invasion." PLOS ONE 16, no. 4 (April 28, 2021): e0250296. http://dx.doi.org/10.1371/journal.pone.0250296.

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Salmonella Enteritidis is an intracellular foodborne pathogen that has developed multiple mechanisms to alter poultry intestinal physiology and infect the gut. Short chain fatty acid butyrate is derived from microbiota metabolic activities, and it maintains gut homeostasis. There is limited understanding on the interaction between S. Enteritidis infection, butyrate, and host intestinal response. To fill this knowledge gap, chicken macrophages (also known as HTC cells) were infected with S. Enteritidis, treated with sodium butyrate, and proteomic analysis was performed. A growth curve assay was conducted to determine sub-inhibitory concentration (SIC, concentration that do not affect bacterial growth compared to control) of sodium butyrate against S. Enteritidis. HTC cells were infected with S. Enteritidis in the presence and absence of SIC of sodium butyrate. The proteins were extracted and analyzed by tandem mass spectrometry. Our results showed that the SIC was 45 mM. Notably, S. Enteritidis-infected HTC cells upregulated macrophage proteins involved in ATP synthesis through oxidative phosphorylation such as ATP synthase subunit alpha (ATP5A1), ATP synthase subunit d, mitochondrial (ATP5PD) and cellular apoptosis such as Cytochrome-c (CYC). Furthermore, sodium butyrate influenced S. Enteritidis-infected HTC cells by reducing the expression of macrophage proteins mediating actin cytoskeletal rearrangements such as WD repeat-containing protein-1 (WDR1), Alpha actinin-1 (ACTN1), Vinculin (VCL) and Protein disulfide isomerase (P4HB) and intracellular S. Enteritidis growth and replication such as V-type proton ATPase catalytic subunit A (ATPV1A). Interestingly, sodium butyrate increased the expression of infected HTC cell protein involving in bacterial killing such as Vimentin (VIM). In conclusion, sodium butyrate modulates the expression of HTC cell proteins essential for S. Enteritidis invasion.

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Journal articles on the topic 'ACTN1'

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