Caveolin-3 in muscular dystrophy

Elizabeth M. McNally*, Eloisa De Sá Moreira, David J. Duggan, Carsten G. Bönnemann, Michael P. Lisanti, Hart G W Lidov, Mariz Vainzof, M. Rita Passos-Bueno, Eric P. Hoffman, Mayana Zatz, Louis M. Kunkel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

178 Scopus citations

Abstract

The dystrophin-glycoprotein complex (DGC) serves as a link between cytoplasmic actin, the membrane and the extracellular matrix of striated muscle. Genetic defects in genes encoding a subset of DGC proteins result in muscular dystrophy and a secondary decrease in other DGC proteins. Caveolae are dynamic structures that have been implicated in a number of functions including endocytosis, potocytosis and signal transduction. Caveolin (VIP-21) is thought to play a structural role in the formation of non-clathrin-coated vesicles in a number of different cell types. Caveolin-3, or M-caveolin, was identified as a muscle specific form of the caveolin family. We show that caveolin-3 co-purifies with dystrophin, and that a fraction of caveolin-3 is a dystrophin-associated protein. We isolated the gene for human caveolin-3 and mapped it to chromosome 3p25. We determined the genomic organization of human caveolin-3 and devised a screening strategy to look for mutations in caveolin-3 in patients with muscular dystrophy. Of 82 patients screened, two nucleotide changes were found that resulted in amino acid substitutions (G55S and C71W); these changes were not seen in a control population. The amino acid changes map to a functionally important domain in caveolin-3, suggesting that these are not benign polymorphisms and instead are disease-causing mutations.

Original languageEnglish (US)
Pages (from-to)871-877
Number of pages7
JournalHuman molecular genetics
Volume7
Issue number5
DOIs
StatePublished - May 1998

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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