Role of dystrophin isoforms and associated proteins in muscular dystrophy (review).

摘要: The membrane cytoskeletal component dystrophin and its associated glycoproteins play a central role in the molecular pathogenesis of several muscular dystrophies, i.e. Duchenne/Becker dystrophy, congenital dystrophy various forms limb-girdle dystrophy. Although most frequent these disorders, Duchenne is mainly recognized as disease skeletal muscle fibers, pathophysiological changes also involve heart diaphragm, well peripheral nervous system. Thus current research efforts into elucidation mechanisms underlying genetic diseases are not only directed towards studying necrosis but investigate abnormalities brain dystrophin-glycoprotein complexes cardiomyopathy deficiencies with Furthermore, many isoforms dystrophin-associated components have been identified non-muscle tissues their function(s) mostly unknown. With respect to characterization new proteins, such dystrobrevin, sarcospan syntrophins, led modified model spatial configuration complex. However, it generally accepted now that beta-dystroglycan plasmalemma-spanning linkage between laminin-binding protein alpha-dystroglycan this complex sarcoglycan subcomplex sarcolemmal glycoproteins.