Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dysferlin is a membrane-anchored protein known to facilitate membrane repair in skeletal muscles following mechanical injury. Mutations of dysferlin gene impair sarcolemma integrity, a hallmark of certain forms of muscular dystrophy in patients. Dysferlin contains seven calcium-dependent C2 binding domains, which are required to promote fusion of intracellular membrane vesicles. Emerging evidence reveal the unexpected expression of dysferlin in non-muscle, non-mechanically active tissues, such as endothelial cells, which cast doubts over the belief that ferlin proteins act exclusively as membrane repair proteins. We and others have shown that deficient trafficking of membrane bound proteins in dysferlin-deficient cells, suggesting that dysferlin might mediate trafficking of client proteins. Herein, we describe the intracellular trafficking and movement of GFP-dysferlin positive vesicles in unfixed reconstituted cells using live microscopy. By performing GST pull-down assays followed by mass spectrometry, we identified dysferlin binding protein complexes in human vascular endothelial cells. Together, our data further support the claims that dysferlin not only mediates membrane repair but also trafficking of client proteins, ultimately, help bridging dysferlinopathies to aberrant membrane signaling.
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PMID:Proteomic identification of dysferlin-interacting protein complexes in human vascular endothelium. 2203 54

The most common form of muscular dystrophy is known as Myotonic dystrophy Type 1 (DM1) in adults. It was aimed to investigate the relationship between antioxidant imbalance and diaphragm thickness with pulmonary function test results in peripheral blood of Myotonic Dystrophy Type 1 patients. In the prospective study, 33 DM1 and 32 healthy control groups were taken after the ethics committee decision (2018-10529). Antioxidant defence system enzymes superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPX), glutathione reductase (GR), glutathione S-transferase (GST) and thiobarbituric acid reactive species (TBARS) levels were studied in blood samples. Also, muscular strength (MRC score), creatine kinase (CK) and diaphragm thicknesses were measured, and pulmonary function tests were performed. Among the studied parameters, TBARS levels and GPX, GR and GST activities in erythrocytes of DM1 patients showed a significant decrease in the range of 29-45% compared to the control group. MRC score, diaphragm thickness and inspiratory function test results at the end of inspiration and expiration were found lower though CK levels were higher in DM1 group. In the patient group, a positive correlation was found between antioxidant parameters (TBARS, CAT and GST) with diaphragm thicknesses and pulmonary function test though GPX showed a negative correlation with them. It was emphasized that the data obtained shows the harmful/pathogenic role of oxidative stress caused by free radicals in DM1, and also provide useful data for the treatment and processes of this disease.
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PMID:Antioxidant imbalance in the erythrocytes of Myotonic dystrophy Type 1 patients. 3187 Jun 60