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Minetti, C. et al.

Minetti, Bado, Broda, Sotgia, Bruno, Galbiati, Volonte, Lucania, Pavan, Bonilla, Lisanti, Cordone,

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

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.[1]

References

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. Minetti, C., Bado, M., Broda, P., Sotgia, F., Bruno, C., Galbiati, F., Volonte, D., Lucania, G., Pavan, A., Bonilla, E., Lisanti, M.P., Cordone, G. Am. J. Pathol. (2002) [Pubmed]

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