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

Carlo Minetti, Massimo Bado, Paolo Broda, Federica Sotgia, Claudio Bruno, Ferruccio Galbiati, Daniela Volonte, Giuseppe Lucania, Antonio Pavan, Eduardo Bonilla, Michael P. Lisanti, Giuseppe Cordone

Research output: Contribution to journalArticlepeer-review

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 subsarcolemmal 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.

Original languageEnglish
Pages (from-to)265-270
Number of pages6
JournalAmerican Journal of Pathology
Volume160
Issue number1
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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