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Am J Pathol. 2002 Jan;160(1):265-70.

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.

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  • 1Servizio Malattie Neuro-Muscolari, Dipartimento di Pediatria, Università di Genova, Istituto G. Gaslini, Genova, Italy. minettic@unige.it

Abstract

Caveolin-3, a muscle specific caveolin-related protein, is the principal structural protein of caveolar membranes. We have recently identified an autosomal dominant form of limb girdle muscular dystrophy (LGMD-1C) that is due to caveolin-3 deficiency and caveolin-3 gene mutations. Here, we studied by electron microscopy, including freeze-fracture and lanthanum staining, the distribution of caveolae and the organization of the T-tubule system in caveolin-3 deficient human muscle fibers. We found a severe impairment of caveolae formation at the muscle cell surface, demonstrating that caveolin-3 is essential for the formation and organization of caveolae in muscle fibers. In addition, we also detected a striking disorganization of the T-system openings at the sub-sarcolemmal level in LGMD-1C muscle fibers. These observations provide new perspectives in our understanding of the role of caveolin-3 in muscle and of the pathogenesis of muscle weakness in caveolin-3 deficient muscle.

PMID:
11786420
[PubMed - indexed for MEDLINE]
PMCID:
PMC1867137
Free PMC Article
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