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Current Genomics

Editor-in-Chief

ISSN (Print): 1389-2029
ISSN (Online): 1875-5488

Caveolin-3: Its Importance in Muscle Function and Pathology

Author(s): M. P. Hezel, J. N. Bartholomew and F. Galbiati

Volume 6, Issue 5, 2005

Page: [293 - 314] Pages: 22

DOI: 10.2174/1389202054750220

Price: $65

Abstract

Caveolae are microdomains of the plasma membrane enriched in cholesterol and glycosphingolipids. Caveolin- 3 is the structural protein component of caveolar membranes in muscle cells. The functional role of caveolin-3 in muscle cells has become more apparent over the last few years as several mutations of the caveolin-3 gene have been linked to muscle diseases, and animal models lacking or over-expressing caveolin-3 have been generated and characterized. In this review we give a summary of the current literature on the genetic mutations of the caveolin-3 gene and their effect on muscle and heart tissue functions, predominantly how it pertains to muscular dystrophy. We will look at how the caveolin- 3 protein regulates signaling pathways in muscle cells and the physiological ramifications of these interactions in normal and pathological conditions. We will also give an overview of the data from genetically engineered mouse models.

Keywords: caveolae, caveolin, muscular dystrophy, skeletal muscle cells, cardiac myocytes, cardiomyopathy

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