Impairment of Caveolae Formation and T-system Disorganization in Human Muscular Dystrophy with Caveolin-3 Deficiency

Overview

Journal Am J Pathol

Publisher Elsevier

Specialty Pathology

Date 2002 Jan 12

PMID 11786420

Citations 35

Authors

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

Affiliations

Soon will be listed here.

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.

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