Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities

J Biol Chem. 2001 Jun 15;276(24):21425-33. doi: 10.1074/jbc.M100828200. Epub 2001 Mar 19.

Abstract

Caveolin-3, a muscle-specific caveolin-related protein, is the principal structural protein of caveolae membrane domains in striated muscle cells. Recently, we identified a novel autosomal dominant form of limb-girdle muscular dystrophy (LGMD-1C) in humans that is due to mutations within the coding sequence of the human caveolin-3 gene (3p25). These LGMD-1C mutations lead to an approximately 95% reduction in caveolin-3 protein expression, i.e. a caveolin-3 deficiency. Here, we created a caveolin-3 null (CAV3 -/-) mouse model, using standard homologous recombination techniques, to mimic a caveolin-3 deficiency. We show that these mice lack caveolin-3 protein expression and sarcolemmal caveolae membranes. In addition, analysis of skeletal muscle tissue from these caveolin-3 null mice reveals: (i) mild myopathic changes; (ii) an exclusion of the dystrophin-glycoprotein complex from lipid raft domains; and (iii) abnormalities in the organization of the T-tubule system, with dilated and longitudinally oriented T-tubules. These results have clear mechanistic implications for understanding the pathogenesis of LGMD-1C at a molecular level.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Calcium Channels, L-Type / analysis
  • Calcium Channels, L-Type / genetics
  • Caveolin 3
  • Caveolins / deficiency
  • Caveolins / genetics*
  • Caveolins / physiology*
  • Dystrophin / metabolism*
  • Glycoproteins / metabolism
  • Humans
  • Membrane Microdomains / pathology
  • Membrane Microdomains / physiology
  • Mice
  • Mice, Knockout
  • Microtubules / pathology
  • Microtubules / physiology
  • Microtubules / ultrastructure
  • Muscle Proteins / deficiency
  • Muscle Proteins / genetics
  • Muscle Proteins / physiology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics
  • Muscular Dystrophy, Animal / genetics
  • Muscular Dystrophy, Animal / pathology
  • Mutation
  • Restriction Mapping
  • Ryanodine Receptor Calcium Release Channel / analysis
  • Ryanodine Receptor Calcium Release Channel / genetics

Substances

  • Calcium Channels, L-Type
  • Cav3 protein, mouse
  • Caveolin 3
  • Caveolins
  • Dystrophin
  • Glycoproteins
  • Muscle Proteins
  • Ryanodine Receptor Calcium Release Channel