Academic literature on the topic 'Index of α-expression'
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Journal articles on the topic "Index of α-expression"
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Chen, Yung-Che, Po-Yuan Hsu, Mao-Chang Su, Chien-Hung Chin, Chia-Wei Liou, Ting-Ya Wang, Yong-Yong Lin, Chiu Ping Lee, Meng-Chih Lin, and Chang-Chun Hsiao. "miR-21-5p Under-Expression in Patients with Obstructive Sleep Apnea Modulates Intermittent Hypoxia with Re-Oxygenation-Induced-Cell Apoptosis and Cytotoxicity by Targeting Pro-Inflammatory TNF-α-TLR4 Signaling." International Journal of Molecular Sciences 21, no. 3 (February 3, 2020): 999. http://dx.doi.org/10.3390/ijms21030999.
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The purpose of this study is to explore the anti-inflammatory role of microRNAs (miR)-21 and miR-23 targeting the TLR/TNF-α pathway in response to chronic intermittent hypoxia with re-oxygenation (IHR) injury in patients with obstructive sleep apnea (OSA). Gene expression levels of the miR-21/23a, and their predicted target genes were assessed in peripheral blood mononuclear cells from 40 treatment-naive severe OSA patients, and 20 matched subjects with primary snoring (PS). Human monocytic THP-1 cell lines were induced to undergo apoptosis under IHR exposures, and transfected with miR-21-5p mimic. Both miR-21-5p and miR-23-3p gene expressions were decreased in OSA patients as compared with that in PS subjects, while TNF-α gene expression was increased. Both miR-21-5p and miR-23-3p gene expressions were negatively correlated with apnea hypopnea index and oxygen desaturation index, while TNF-α gene expression positively correlated with apnea hypopnea index. In vitro IHR treatment resulted in decreased miR-21-5p and miR-23-3p expressions. Apoptosis, cytotoxicity, and gene expressions of their predicted target genes—including TNF-α, ELF2, NFAT5, HIF-2α, IL6, IL6R, EDNRB, and TLR4—were all increased in response to IHR, while all were reversed with miR-21-5p mimic transfection under IHR condition. The findings provide biological insight into mechanisms by which IHR-suppressed miRs protect cell apoptosis via inhibit inflammation, and indicate that over-expression of the miR-21-5p may be a new therapy for OSA.
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Li, Xi-Ying, Yan-Ting Yang, Yue Zhao, Xie-He Kong, Guang Yang, Jue Hong, Dan Zhang, and Xiao-Peng Ma. "Moxibustion Inhibits the Expression of Colonic NLRP3 through miR7/RNF183/NF-κB Signaling Pathway in UC Rats." Evidence-Based Complementary and Alternative Medicine 2021 (November 3, 2021): 1–12. http://dx.doi.org/10.1155/2021/6519063.
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Background. Moxibustion has been recognized as an effective approach for ulcerative colitis, yet its mechanism is not clear. The research aimed to investigate the influence of moxibustion on the activation of NLRP3 inflammasome and its mechanism in treating ulcerative colitis by observing miR7/RNF183 inducing IκB α ubiquitination to regulate NF-κB signaling pathway in an ulcerative colitis rat model. Methods. An ulcerative colitis rat model was established by unlimited access to self-administration of 3.5% (w/v) dextran sulfate sodium solution. Mild moxibustion was applied to bilateral Tianshu points (ST25) in the moxa-stick moxibustion group; rats in the control group were intervened by intraperitoneal injection of ubiquitination inhibitor, MG132. The disease activity index was determined at the end of the intervention; colon injury was observed and scored after hematoxylin-eosin staining; the immunohistochemical method was adopted to detect the expressions of colonic IL-1β and NLRP3 proteins; Western blot determined the expressions of RNF183, IκB α, and NF-κB p65 proteins in the colon; the immunofluorescence test was used to observe the coexpression of IκB α/ubiquitin and IκB α/RNF183 proteins in the colon; immunoprecipitation assay was adopted to observe the interaction between IκB α and RNF183 proteins; and quantitative real-time polymerase chain reaction determined the expression of colonic miR7. Results. Moxibustion lowered the disease activity index, manifesting as restored colonic tissue and reduced inflammatory reaction, and decreased expression levels of NLRP3 and IL-1β proteins, compared with the model group. It also reduced colonic expression of NF-κB p65 protein, together with the increased level of IκB α protein and weaker expression levels of ubiquitin and RNF183 proteins and mRNAs and stronger expression of miR7. There were no significant differences between the moxa-stick moxibustion group and the control group except the expressions of RNF183 protein and mRNA and miR7. Conclusion. Moxibustion encourages the recovery of colon injury probably by regulating the expression of NLRP3 protein in ulcerative colitis rats through miR7/RNF183/NF-κB signaling pathway.
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Alexiou, George A., George Vartholomatos, Kalliopi Stefanaki, Amalia Patereli, Lefkothea Dova, Achilleas Karamoutsios, George Lallas, George Sfakianos, Maria Moschovi, and Neofytos Prodromou. "Expression of heat shock proteins in medulloblastoma." Journal of Neurosurgery: Pediatrics 12, no. 5 (November 2013): 452–57. http://dx.doi.org/10.3171/2013.7.peds1376.
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Object Medulloblastoma (MB) is the most common malignant brain tumor in children. Heat shock proteins (HSPs) comprise a superfamily of proteins that serve as molecular chaperones and are overexpressed in a wide range of human cancers. The purpose of the present study was to investigate the expression of HSP27 (pSer82), HSP27 (pSer15), HSP40, HSP60, HSP70, HSP90-α, Akt, and phospho-Akt by multiplex bead array assay of MBs. The results of HSP and Akt expression were correlated with MB subtype; immunohistochemical expression of Ki-67 index, bcl-2, and p53; and patients' prognosis. Methods The authors retrospectively evaluated 25 children with MB who underwent surgery. Immunohistochemical analysis of Ki-67, p53, and bcl-2 expression was performed in all cases. By using multiplex bead array assay, a simultaneous detection of HSP27 (pSer82), HSP27 (pSer15), HSP40, HSP60, HSP70, HSP90-α, Akt, and phospho-Akt was performed. Results Medulloblastoma with extensive nodularity had significantly lower HSP27 (pSer15) expression (p = 0.039) but significantly higher HSP60 expression (p = 0.021) than classic MB. Large-cell MB had significantly higher HSP70 expression (p = 0.028) than classic MB. No significant difference was found between HSP27 (pSer82), HSP40, HSP90-α, Akt, or phospho-Akt expression and MB subtype. Large-cell MBs had significantly higher Ki-67 index compared with classic MBs (p = 0.033). When analyzing all MBs, there was a significant negative correlation between HSP27 (pSer15) and Ki-67 index (r = −0.475, p = 0.016); a significant positive correlation between HSP70 expression and Ki-67 index (r = 0.407, p = 0.043); and a significant positive correlation between HSP70 expression and bcl-2 index (r = 0.491, p = 0.023). Patients with large-cell MB had a worse survival than those with classic MB, but the difference did not reach statistical significance (p = 0.076). Conclusions A substantial expression of several HSPs in MB was observed. Given that HSPs represent an attractive strategy for anticancer therapy, further studies, involving larger series of patients, are obviously necessary to clarify the relationship of HSPs with tumor aggressiveness and prognosis.
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Jankowski, J., R. McMenemin, D. Hopwood, J. Penston, and K. G. Wormsley. "Abnormal expression of growth regulatory factors in Barrett's oesophagus." Clinical Science 81, no. 5 (November 1, 1991): 663–68. http://dx.doi.org/10.1042/cs0810663.
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1. In order to assess potential abnormalities in the control of mucosal proliferation, 30 patients with Barrett's oesophagus were studied in order to evaluate the presence and distribution of epidermal growth factor, transforming growth factor-α and epidermal growth factor receptor to determine the Ki-67 labelling index in the affected oesophageal mucosa. Serial sections were analysed immunohistochemically. Ten of the patients had adenocarcinoma in the Barrett's mucosa and the other 20 had differing histological types of Barrett's mucosa (10, intestinal-type; 10, fundic-or cardiac-type). 2. The expression of transforming growth factor-α, epidermal growth factor and epidermal growth factor receptor was increased and the Ki-67 labelling index was higher in Barrett's mucosa compared with normal gastric mucosa. The ‘intestinal-type’ of Barrett's mucosa had the greatest expression of transforming growth factor-α, epidermal growth factor receptor and the highest Ki-67 labelling index compared with the other types of Barrett's metaplasia. Five cases of ‘intestinal-type’ Barrett's metaplasia had especially high Ki-67 labelling indices and these patients over-expressed both transforming growth factor-α and epidermal growth factor receptor. The patients with adenocarcinomas in the Barrett's mucosa also over-expressed transforming growth factor-α and epidermal growth factor receptor, but not epidermal growth factor, compared with normal gastric mucosa. 3. In conclusion, both normal gastric mucosa and Barrett's mucosa have potential autocrine growth regulatory mechanisms, but Barrett's mucosa has increased expression of both of the measured ligands and of the epidermal growth factor receptor.
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Qian, Xiao-Xian, Chen-Wen Cai, Han-Yang Li, Li-Jie Lai, Dong-Juan Song, Yu-Qi Qiao, Jun Shen, and Zhi-Hua Ran. "Transcribed ultraconserved region (T-UCR) uc.261 expression is closely correlated with disease activity and intestinal permeability in Crohn’s disease." Therapeutic Advances in Gastroenterology 12 (January 2019): 175628481988073. http://dx.doi.org/10.1177/1756284819880733.
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Objectives: Transcribed ultraconserved region (T-UCR) uc.261 is reported to participate in intestinal mucosa barrier damage in Crohn’s disease (CD). The aim of this study was to determine the association with disease activity and intestinal permeability. Methods: Uc.261 level in colon mucosa and Harvey-Bradshaw Index (HBI) were evaluated in 20 active CD patients. Uc.261 expression and transepithelial electrical resistance (TEER) were determined in Caco2 and T84 cells treated with tumor necrosis factor alpha (TNF-α), respectively. Body weight, disease activity index (DAI), colon length, histological index (HI), intestinal permeability to FITC-dextran, uc.261, and tight junction proteins (TJPs) levels were evaluated in BALB/C mice treated with saline enema, trinitrobenzene sulfonic acid (TNBS)/ethanol enema, and anti-TNF-α monoclonal antibody injection, respectively. Results: Uc.261 expression was overexpressed in CD patients, TNF-α treated cells, and colitis mice. Uc.261 expression was positively correlated with HBI ( r = 0.582, p = 0.007) in CD patients, and positively correlated with TNF-α concentration and negatively correlated TEER in Caco2 and T84 cells (all p < 0.05). Furthermore, uc.261 was positively correlated with DAI ( r = 0.824, p = 0.008), HI ( r = 0.672, p = 0.021), and intestinal permeability ( r = 0.636, p = 0.012), while negatively correlated with body weight ( r = –0.574, p = 0.035), colon length ( r = –0.866, p = 0.017), and TJP expression (all p < 0.05) in colitis mice. Conclusions: Uc.261 expression was closely correlated with disease activity and intestinal permeability in CD. Anti-TNF-α treatment may play its role through suppressing uc.261 expression in colitis mice.
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Nieto, A., L. Peña, M. D. Pérez-Alenza, M. A. Sánchez, J. M. Flores, and M. Castaño. "Immunohistologic Detection of Estrogen Receptor Alpha in Canine Mammary Tumors: Clinical and Pathologic Associations and Prognostic Significance." Veterinary Pathology 37, no. 3 (May 2000): 239–47. http://dx.doi.org/10.1354/vp.37-3-239.
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Eighty-nine canine mammary tumors and dysplasias of 66 bitches were investigated to determine the immunohistochemical expression of classical estrogen receptor (ER-α) and its clinical and pathologic associations and prognostic value. A complete clinical examination was performed and reproductive history was evaluated. After surgery, all animals were followed-up for 18 months, with clinical examinations every 3–4 months. ER-α expression was higher in tumors of genitally intact and young bitches ( P < 0.01, P < 0.01) and in animals with regular estrous periods ( P = 0.03). Malignant tumors of the bitches with a previous clinical history of pseudopregnancy expressed significantly more ER-α ( P = 0.04). Immunoexpression of ER-α decreased significantly with tumor size ( P = 0.05) and skin ulceration ( P = 0.01). Low levels of ER-α were significantly associated with lymph node involvement ( P < 0.01). Malignant tumors had lower ER-α expression than did benign tumors ( P < 0.01). Proliferation index measured by proliferating cell nuclear antigen immunostaining was inversely correlated with ER-α scores ( P = 0.05) in all tumors. Low ER-α levels in primary malignant tumors were significantly associated with the occurrence of metastases in the follow-up ( P = 0.03). Multivariate analyses were performed to determine the prognostic significance of some follow-up variables. ER-α value, Ki-67 index, and age were independent factors that could predict disease-free survival. Lymph node status, age, and ER-α index were independent prognostic factors for the overall survival. The immunohistochemical detection of ER-α in canine mammary tumors is a simple technique with prognostic value that could be useful in selecting appropriate hormonal therapy.
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Dong, Weitao, Bin Wang, Rongchao Zhang, Junyi Cao, and Rong Wu. "Therapeutic effects of acupuncture in rheumatoid arthritis are associated with centromere protein F expression." Allergologia et Immunopathologia 50, no. 3 (May 1, 2022): 47–54. http://dx.doi.org/10.15586/aei.v50i3.564.
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Rheumatoid arthritis is a globally common autoimmune inflammatory disease found especially in China. Acupuncture (AP), a traditional Chinese medicine (TCM) treatment method, is commonly used for treating rheumatoid arthritis. Many studies have demonstrated that acupuncture alone or in combination with other treatments is beneficial to treat clinical situation of rheumatoid arthritis, thus improving function and quality of life. In this study, we found that centromere protein F (CENPF) is a key gene in rheumatoid arthritis with acupuncture treatment by using differentially expressed genes (DEGs) and random forest model analysis of GSE57983 and GSE77298. Acupuncture helps to up-regulate the expression of CENPF in tissues in rheumatoid arthritis. Functionally, overexpression of CENPF inhibits monocyte chemoattractant protein (MCP)-1, tumor necrosis factor (TNF)-α, and Interleukin (IL)-6 expressions whereas deficiency of CENPF facilitates MCP-1, TNF-α, and IL-6 expressions in a collagen-induced arthritis (CIA) rat model. Furthermore, knocked down CENPF with acupuncture treatment antagonizes the inhibition of MCP-1, TNF-α, and IL-6 expressions in a CIA rat model. CENPF could be a crucial biomarker in regulating function of acupuncture in treating rheumatoid arthritis. Objective: The objective of this study is to study the critical role of CENPF in regulation of rheumatoid arthritis with acupuncture treatment. Methods: PCA was used to analyze the different expression genes between AP treatment group and control group. Volcano plot and random forest model were used to analyze the decreased and increased expression genes. RT-qPCR and IF were used to measure the expression of CENPF in CIA model rat with or without AP treatment. The expression of MCP-1, TNF-α and IL-6 was measured by western blotting. The pathology character and arthritis index were used to analyze the severity of joint injury. Results: PCA data showed that the expression of genes was different between AP treatment group and control group from GEO datasets. Volcano plot and random forest model analysis indicated that CENPF is the most significantly increased expression gene after AP treatment. RT-qPCR and IF assay showed that CENPF is reduced expression in CIA model rat, while CENPF is upregulated expression in CIA model rat with AP treatment. Furthermore, overexpression of CENPF reduced the increasing of MCP-1, TNF-α and IL-6 in CIA model rat. On the contrary, CENPF deficiency induced the expression of MCP-1, TNF-α and IL-6 in CIA model rat. Additionally, the expression of MCP-1, TNF-α and IL-6 in CIA model rat was suppressed, whereas knockdown of CENPF antagonized the decrease of MCP-1, TNF-α and IL-6 in CIA model rat with AP treatment. Conclusions: CENPF may be a key gene in regulation of the therapeutic effects of acupuncture in rheumatoid arthritis.
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Wang, Shih-Wei, Tsun-Mei Lin, Chiou-Huey Wang, Hsiao-Han Liu, and Jer-Yiing Houng. "Increased Toll-Like Receptor 2 Expression in Peptidoglycan-Treated Blood Monocytes Is Associated with Insulin Resistance in Patients with Nondiabetic Rheumatoid Arthritis." Mediators of Inflammation 2012 (2012): 1–10. http://dx.doi.org/10.1155/2012/690525.
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The close relationship between increased TLR-2 expression in blood monocytes and insulin resistance in RA patients is shown in this study. Traditional risk factors for metabolic disorders, including the waist circumstance, body mass index (BMI), triglyceride (TG), and ratio of TG to high density lipoprotein (HDL) cholesterol, were closely correlated with HOMA (homoeostasis model assessment) index in patients with nondiabetic RA. Expressions of TLR2 in peripheral blood monocytes, following stimulation with peptidoglycan which is known as a TLR2 agonist, were closely correlated with the HOMA index, TNF-α, and IL-6 concentrations. Accordingly, TLR-2 receptor and its related inflammatory cytokines could be potential therapeutic targets in managing insulin resistance in RA patients.
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Wang, Rubiao, Wenjun Xie, Hongrong Rao, Yujian Tan, Rongkun Liao, Yingmei Jiang, and Hongbin Zhang. "Effects of Tanshinone on Hemodynamics and Expression of NF- B and Myeloperoxidase in Rats with Spinal Cord Ischemia-Reperfusion Injury." Journal of Biomaterials and Tissue Engineering 10, no. 7 (July 1, 2020): 1040–45. http://dx.doi.org/10.1166/jbt.2020.2347.
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Spinal cord ischemia-reperfusion injury (SCII) can cause spinal nerve injury and loss of function. Tanshinone IIA has antioxidant activity. However, the effect of tanshinone on SCII rats remains unclear. SD rats were randomly divided sham operation group (sham group), SCII group and tanshinone group. Heart rhythm (HR), mean blood pressure (MAP), and myocardial oxygen consumption index (RPP) hemodynamic parameters were analyzed. Rat neurological function scores were performed by the Tarlov method. The glutamate detection kit was used to detect the content of glutamate, superoxide dismutase (SOD) and myeloperoxidase (MPO). NF-κ B protein expression was assessed by Western blot. The expressions of tumor necrosis factor-α (TNF-α) and interleukin6 (IL-6) were analyzed by ELISA. In SCII group, HR, MAP, RPP, and neurological function score as well as SOD activity were significantly decreased with increased MPO, glutamate, TNF-α and IL-6 secretion as well as elevated NF-κ B expression compared with sham group (P < 0 05). After tanshinone treatment, HR, MAP, RPP, and neurological function score as well as SOD activity were all significantly increased along with decreased MPO, glutamate, TNF-α and IL-6 secretion, as well as reduced NF- κB expression compared with SCII group (P < 0 05). Tanshinone can improve the oxidative stress, reduce the secretion of inflammatory factors, and improve hemodynamics which is possibly through regulating NF-κ B expression.
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Oregón-Romero, Edith, Mónica Vázquez-Del Mercado, Sandra Luz Ruiz-Quezada, Rosa Elena Navarro-Hernández, Héctor Rangel-Villalobos, Gloria Martínez-Bonilla, Ana Guilaisne Bernard-Medina, Juan Armendáriz-Borunda, Jesús García-Bañuelos, and José Francisco Muñoz-Valle. "Tumor Necrosis Factor α-308 and -238 Polymorphisms in Rheumatoid Arthritis. Association With Messenger RNA Expression and sTNF-α." Journal of Investigative Medicine 56, no. 7 (October 1, 2008): 937–43. http://dx.doi.org/10.2310/jim.0b013e318189152b.
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BackgroundRheumatoid arthritis (RA) is characterized by a progressive joint damage mediated mainly by tumor necrosis factor α (TNFα). We investigated the relationship of TNFα-308 and -238 polymorphisms with messenger RNA (mRNA) expression and soluble TNFα (sTNFα) in 50 RA and 100 healthy subjects (HS).MethodsClinical and laboratory assessments were performed. Spanish Health Assessment Questionnaire Disability Index, Spanish version of Arthritis Impact Measurement Scales and Disease Activity Score using 28 joint count indices were applied to RA patients. The TNFα-308 and -238 polymorphisms were performed by polymerase chain reaction and restriction fragment length polymorphism techniques. The mRNA expression of TNFα was quantified by real-time polymerase chain reaction. The sTNFα levels were measured by enzyme-linked immunosorbent assay.ResultsThe TNFα-308 polymorphism showed an increased frequency of guanine (G)/adenine (A) genotype in RA versus HS (P = 0.03; 95% confidence interval, 1.05-8.08; odds ratio, 2.9) and also the A allele was more frequent in RA patients versus HS (P = 0.04; 95% confidence interval, 1.01-7.29; odds ratio, 2.7). The G/G genotype and also the G allele were more frequent in HS. No significant difference was observed in TNFα-238 polymorphism. Rheumatoid arthritis patients showed high TNFα mRNA expression (1.33-fold). The G/G genotype was associated with high mRNA and sTNFα levels in both TNFα polymorphisms. The correlation of sTNFα levels with C-reactive protein, erythrocyte sedimentation rate, rheumatoid factor, Spanish Health Assessment Questionnaire Disability Index, and Spanish version of Arthritis Impact Measurement Scales, was observed.ConclusionThe TNFα-308 polymorphism is a susceptibility marker to RA. The G/G genotype is associated with a high mRNA and soluble TNFα expression.
Dissertations / Theses on the topic "Index of α-expression"
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Ясунова, Масума Пулатівна. "Метод оцінки інтегральної активності ЕЕГ під впливом аудіо сигналів." Bachelor's thesis, КПІ ім. Ігоря Сікорського, 2021. https://ela.kpi.ua/handle/123456789/43674.
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Обсяг звіту становить 57 сторінок, міститься 32 ілюстрації, 14 таблиць, 5 формул, 2 додатки. Загалом опрацьовано 36 джерел.
Актуальність даної роботи полягаєу визначенні залежності біоелектричної активності головного мозку від амплітудно-частотних характеристик звукового сигналу. У наш час музика супроводжує наше життя, тому важливо визначити який вплив вона має на електричну активність головного мозку і як саме змінюються характеристики показників мозкової активності при прослуховуванні музичних сигналів.
Мета:визначити ефективність впливу аудіо сигналів різного амплітудно-частотного складу на зміну інтегральної активності мозку.
Для досягнення мети дипломної роботи було сформовано ряд наступних задач:
1. Проаналізувати амплітудно частотні характеристики обраних аудіо сигналів;
2. Дослідити зміну ЕЕГ-ритмів на фоні впливу обраних аудіо сигналів
3. Дослідити вплив частотних характеристик аудіо сигналу на інтегральну електричну активність мозку.The scope of the report is 57 pages, contains 32 illustrations, 14 tables, 2 annexes. In total, 36 sources were used. The relevance of this work lies in determining the dependence of the bioelectric activity of the brain on the amplitude-frequency characteristics of the sound signal. Nowadays, music accompanies our life, so it is important to determine what impact it has on the electrical activity of the brain and how the characteristics of the indicators of brain activity change when listening to musical signals. Purpose: to determine the effectiveness of audio signal impact of different amplitude-frequency composition on the change of brain integral activity. To achieve the goal of the thesis, the following tasks were formed: 1. Analyze the amplitude-frequency characteristics of the selected audio signals; 2. Investigate the change in EEG rhythms against the background of the influence of selected audio signals; 3. Investigate the influence of frequency characteristics of the audio signal on the integrated electrical activity of the brain.
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Patrick, Chelsea Marie. "The expression of α-N-acetylglucosaminidase in the methylotrophic yeast Pichia pastoris." Thesis, 2006. http://hdl.handle.net/1828/1869.
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Mucopolysaccharidosis IIIB (MPS IIIB) is an autosomal recessive disorder of glycosaminoglycan (GAG) metabolism. Disruption of the gene encoding a-N-acetylglucosaminidase (Naglu) results in the inability to degrade the GAG heparan sulfate (HS). Consequently. undegraded HS builds up and results in the secondary accumulation of gangliosides and substantial changes in the expression of genes related to neural cell growth and function. Clinically, affected individuals display hyperactivity. insomnia and severe and progressive mental retardation. Currently. no treatment or cure is available for this devastating disorder which is ultimately fatal. Enzyme replacement therapy is one method being examined as an avenue for treatment of MPS IIIB. but it has yet to overcome difficult obstacles, such as production and targeted delivery. This thesis examines the use of the methylotrophic yeast Pichia pastoris as a host for the production of recombinant Naglu. A protein transduction domain (PTD) derived from the HIV-l Tat protein was fused to Naglu to circumvent the current problems faced in delivering this therapeutic enzyme. Expression of this fusion protein was tested in four different strains of Pichia. each with unique attributes. Though the Naglu produced was in an active recombinant form. it was not abundant and this has precluded further characterization. It is likely that inefficiency at the transcriptional/post-transcriptional level hindered higher expression levels. Optimization of these factors may well facilitate Naglu expression in Pichia pastoris. and ultimately allow for substantial enzyme production for use in replacement therapy.
Conference papers on the topic "Index of α-expression"
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Barros, Eduarda Pereira de, Fábio Lima Baggio, Bruna Giaretta Ventorin, Amanda Raminelli Morceli, and Diogo Fraxino de Almeida. "Pompe disease: case report in siblings." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.270.
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Introduction: Pompe disease (PD) affects lysosomal digestion due to absence or low action of the enzyme acid α-glucosidase (GAA), with accumulation of glycogen, causing overflow of enzymes and autophagy, which affects striated muscle. PD is divided into infantile, juvenile, and adult clinical forms, with severity determined by amount of residual GAA activity. Case: P1) 45-year-old man admitted with acute respiratory failure (RF), starts mechanical ventilation. History of weakness, dyspnea, dysphagia. He had decreased proximal muscle strength at lower limbs (LL). Sequencing of GAA gene: autosomal recessive deficiency of two variants. Apnea-hypopnea-index (AHI):10.5. GAA enzyme replacement therapy (ERT) was requested. Judicially denied by disease progression. P2) 40-year-old man presented with loss of muscle strength at LL for 15 years, associated with snoring, daytime somnolence. Brother with similar complaints. He had proximal muscle weakness at LL. Positive genetic panel for PD. AHI:23.5. Judicially released ERT treatment and reported improvement. Discussion: Adult form of PD manifests itself with mild phenotype, with presence of residual GAA activity, which causes different clinical expressions. Main manifestations are symmetric proximal muscle weakness in LL and Gowers’ sign. Frequent death cause in late form is RF, which occurs early, unlike other neuromuscular diseases. In Brazil, PD is underdiagnosed, with approximately 2500 cases. Treatment is performed with Myozyme®, an ERT, not available in SUS, which makes treatment difficult. Conclusion: PD is a serious condition, with high underdiagnosis because of its similarity to other myopathies, which allows disease progression. Furthermore, the variability of GAA mutations allows for distinct phenotypes