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Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy

Takeharu Hayashi1, Takuro Arimura, Kazuo Ueda

  • 1Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.

Biochemical and Biophysical Research Communications
|December 16, 2003
PubMed

Insights

Genetic mutations in caveolin-3 (CAV3) can cause hypertrophic cardiomyopathy (HCM). A specific CAV3 mutation, Thr63Ser, identified in HCM patients, mildly reduced protein expression, suggesting HCM is part of a CAV3 mutation spectrum.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are genetic heart muscle diseases.
  • Disease genes for cardiomyopathies partially overlap with those for limb-girdle muscular dystrophy (LGMD).

Purpose of the Study:

  • To investigate mutations in the caveolin-3 (CAV3) gene, known for LGMD, in patients with HCM or DCM.
  • To understand the functional impact of a novel CAV3 mutation (Thr63Ser) found in HCM patients.

Main Methods:

  • Screening of the CAV3 gene for mutations in HCM and DCM patients.
  • Functional analysis of the identified Thr63Ser mutation using GFP-tagged CAV3 protein distribution studies.

Main Results:

  • A Thr63Ser mutation in the CAV3 gene was identified in a sibling pair with HCM.
  • The Thr63Ser mutation resulted in a mild reduction of caveolin-3 cell surface expression compared to LGMD-associated mutations.

Conclusions:

  • Hypertrophic cardiomyopathy may represent a clinical spectrum of CAV3 gene mutations.
  • CAV3 mutations can lead to cardiomyopathies, with varying severity.

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