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Trends Mol Med. 2001 Oct;7(10):435-41.

Caveolae and caveolin-3 in muscular dystrophy.

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1
Department of Pharmacology, University of Pittsburgh School of Medicine, Biomedical Science Tower (BST), Rm E1356, Pittsburgh, PA 15261, USA.

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 approximately 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.

PMID:
11597517
[Indexed for MEDLINE]
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