Caveolae and caveolin-3 in muscular dystrophy.
Caveolae are vesicular invaginations of the plasma membrane, and function as 'message centers' for regulating signal transduction events. Caveolin-3, a muscle-specific caveolin-related protein, is the principal structural protein of caveolar membrane domains in skeletal muscle and in the heart. Several mutations within the coding sequence of the human caveolin-3 gene (located at 3p25) have been identified. Mutations that lead to a loss of approximately 95% of caveolin-3 protein expression are responsible for a novel autosomal dominant form of limb-girdle muscular dystrophy (LGMD-1C) in humans. By contrast, upregulation of the caveolin-3 protein is associated with Duchenne muscular dystrophy (DMD). Thus, tight regulation of caveolin-3 appears essential for maintaining normal muscle health and homeostasis.
Galbiati
F
F
Department of Pharmacology, University of Pittsburgh School of Medicine, Biomedical Science Tower (BST), Rm E1356, Pittsburgh, PA 15261, USA.
Razani
B
B
Lisanti
M P
MP
D000818:Animals; D021941:Caveolae / Q000737:chemistry / Q000378:metabolism*; D051244:Caveolin 3; D022461:Caveolins / Q000235:genetics* / Q000378:metabolism*; D004195:Disease Models, Animal; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics; D009369:Neoplasms / Q000235:genetics / Q000378:metabolism
D051244:Caveolin 3; D022461:Caveolins