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)

In order to understand the mechanism of defective myofibrilogenesis in muscular dystrophy, we have used the genomic cloned DNA specific for myosin light chain 2A (MLC 2A) to check its expression. The fusion of a partial digest of lambda LC5, containing the upstream sequence of MLC 2A gene with the expression vector of PSVOCAT has already been reported. Using this CAT-fused recombinant containing 1.6 kb of MLC 2A gene, we were able to detect the promoter activity in normal heart cells, H9C2 cell line whereas a restricted expression of MLC 2A gene was noticed in muscular dystrophic muscle cells from heart and skeletal. We have also measured the transient transfection efficiency by contransfecting with the plasmid LacZ. Simultaneous assay of beta-galactosidase and CAT in the cell extract was performed. With beta-galactosidase as control, we confirmed that the promoter activity of MLC 2A gene is inhibited in muscular dystrophy though there is a normal rate of transfection occurred.
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PMID:Restricted expression of cardiac myosin light chain 2A gene in muscular dystrophic condition. 190 50

A radioimmunoassay for human skeletal muscle myosin light chain 3 (MLC-3) was developed. The serum level of MLC-3 was evaluated in 143 patients suffering from neuromuscular diseases. Increased MLC-3 level was observed in muscular dystrophies. There were significant positive correlations between serum levels of MLC-3 and creatine kinase (CK) in Duchenne and limb-girdle type muscular dystrophy, but the regression lines were different. Patients with neurogenic amyotrophy, especially amyotrophic lateral sclerosis, also showed elevated MLC-3 levels with or without high CK, and the frequency of increase in MLC-3 was greater than that of CK. The results of the present study suggest that circulating MLC might be a useful marker for muscle breakdown not merely in myopathies but in neurogenic disorders.
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PMID:Increased serum myosin light chain 3 level in neuromuscular diseases. 311 71