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Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India

Maithili V N Dokuparthi1, Pranathi R Pamuru, Sai S Oruganti

  • 1Department of Genetics, Osmania University, Hyderabad, India.

Indian Journal of Human Genetics
|August 4, 2010
PubMed

Insights

Genetic linkage analysis in Indian families suggests the ARVC-6 locus may harbor a mutated gene responsible for Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). This finding implicates ARVC-6 in ARVC pathogenesis in two of three studied families.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a myocardial disorder characterized by fatty and fibrous tissue replacement in the right ventricle.
  • ARVC is a significant cause of sudden cardiac death in young individuals globally, with increasing prevalence noted in Asian populations.

Purpose of the Study:

  • To investigate the involvement of TMEM43 (ARVC-5), DSP (ARVC-8) genes, and the ARVC-6 locus in the pathogenesis of ARVC in three Indian families.
  • To implicate or exclude specific genetic loci in the etiology of ARVC within the studied population.

Main Methods:

  • Genotyping of three microsatellite markers (D3S3613 for ARVC-5, D10S1664 for ARVC-6, D6S309 for ARVC-8) in 42 family members using PCR-based native PAGE.
  • Performing two-point linkage analysis with the LINKAGE program (version 5.2) to assess genetic associations.

Main Results:

  • Positive LOD scores for the D10S1664 (ARVC-6) marker in KS and REV families suggest its involvement in ARVC etiology.
  • Linkage analysis in the SB family ruled out the involvement of DSP, TMEM43, and ARVC-6 loci due to negative LOD scores.

Conclusions:

  • Linkage analysis indicates that the ARVC-6 locus is a potential site for the mutated gene in two of the three Indian families studied.
  • The findings highlight the genetic heterogeneity of ARVC and point to ARVC-6 as a significant locus in specific populations.
Abstract

Keywords:
Arrythmogenic right ventricular cardiomyopathyLODlinkage analysissudden death

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