Caveolae and caveolin-3 in muscular dystrophy

Ferruccio Galbiati, Babak Razani, Michael P. Lisanti

Research output: Contribution to journalReview article

125 Scopus citations

Abstract

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 -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.

Original languageEnglish
Pages (from-to)435-441
Number of pages7
JournalTrends in Molecular Medicine
Volume7
Issue number10
DOIs
StatePublished - Jan 1 2001
Externally publishedYes

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