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Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene

Petros Syrris1, Deirdre Ward, Alison Evans

  • 1Department of Medicine, University College London, United Kingdom.

American Journal of Human Genetics
|October 13, 2006
PubMed

Insights

Mutations in the desmocollin-2 (DSC2) gene are newly identified in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. This finding supports ARVD/C as a desmosome-related inherited heart muscle disease.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Inherited Cardiac Diseases

Background:

  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart muscle disorder.
  • ARVD/C is linked to mutations in genes encoding desmosomal proteins.
  • Desmosomes are crucial for cardiac cell adhesion and tissue integrity.

Purpose of the Study:

  • To investigate the role of desmocollin-2 (DSC2) in ARVD/C pathogenesis.
  • To screen ARVD/C patients for mutations in the DSC2 gene.

Main Methods:

  • Genetic screening of 77 ARVD/C probands.
  • Analysis of desmocollin-2 (DSC2) gene for mutations.
  • Identification and characterization of identified mutations.

Main Results:

  • Two heterozygous mutations (a deletion and an insertion) were found in DSC2 in four ARVD/C probands.
  • Both mutations led to frameshifts and premature truncation of the DSC2 protein.
  • This is the first identification of DSC2 mutations in ARVD/C patients.

Conclusions:

  • Mutations in DSC2 are implicated in the pathogenesis of ARVD/C.
  • These findings support the hypothesis that ARVD/C is a desmosomal disease.
  • DSC2 is a novel candidate gene for inherited cardiomyopathies.

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