[Muscular dystrophy and dystrophin and its associated proteins].
Recent research revealed that dystrophin and dystrophin-associated proteins from together with the basal lamina a molecular architecture on the cell membrane. Their functions are not clearly known, but assumed from the structural relationship between the molecular architecture and other cell components. The defect of each of the most components of the architecture has been found to correspond with a muscular dystrophy. In this lecture, muscular dystrophies are classified on the basis of these defects. The first structure with merosin-dystroglycans-dystrophin-actin bridges between the muscle basal lamina and membrane cytoskeleton through sarcolemma, whose defect gives rise to muscular dystrophy, such as merosin negative congental muscular dystrophy. The second structure is called sarcoglycan complex composed of three proteins, and loss of any one of its components results in genetically heterogeneous severe childhood autosomal recessive muscular dystrophy (SCARMD). Duchenne and Becker muscular dystrophies are considered as having compound lesions of these two structures.
Ozawa
E
E
National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo.
D003598:Cytoskeletal Proteins / Q000378:metabolism*; D016189:Dystrophin / Q000378:metabolism*; D006801:Humans; D008565:Membrane Proteins; D009136:Muscular Dystrophies / Q000378:metabolism*; D049411:Utrophin
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008565:Membrane Proteins; D049411:Utrophin