Caveolin-3 Null Mice Show a Loss of Caveolae, Changes in the Microdomain Distribution of the Dystrophin-Glycoprotein Complex, and T-tubule Abnormalities
Caveolin-3 Null Mice Show a Loss of Caveolae, Changes in the Microdomain Distribution of the Dystrophin-Glycoprotein Complex, and T-tubule Abnormalities
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.
- University of Genoa Italy
- National Institute for Nuclear Physics Italy
- Goa University India
- Montefiore Einstein Comprehensive Cancer Center United States
- Yeshiva University United States
Mice, Knockout, Calcium Channels, L-Type, Caveolin 3, Restriction Mapping, Muscle Proteins, Ryanodine Receptor Calcium Release Channel, Cell Biology, Muscular Dystrophy, Animal, Biochemistry, Caveolins, Microtubules, Muscular Dystrophies, Dystrophin, Mice, Membrane Microdomains, Mutation, Animals, Humans, Muscle, Skeletal, Molecular Biology, Glycoproteins
Mice, Knockout, Calcium Channels, L-Type, Caveolin 3, Restriction Mapping, Muscle Proteins, Ryanodine Receptor Calcium Release Channel, Cell Biology, Muscular Dystrophy, Animal, Biochemistry, Caveolins, Microtubules, Muscular Dystrophies, Dystrophin, Mice, Membrane Microdomains, Mutation, Animals, Humans, Muscle, Skeletal, Molecular Biology, Glycoproteins
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