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Desmosomal gene evaluation in Boxers with arrhythmogenic right ventricular cardiomyopathy

Kathryn M Meurs1, Martina M Ederer, Joshua A Stern

  • 1Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Washington State University, Pullman, WA 99164, USA.

American Journal of Veterinary Research
|December 7, 2007
PubMed

Insights

Genetic sequencing in Boxers with arrhythmogenic right ventricular cardiomyopathy (ARVC) did not identify mutations in desmosomal genes linked to human ARVC. Further genomewide studies are recommended for canine ARVC genetic research.

Area of Science:

  • Canine genetics
  • Cardiovascular disease research
  • Molecular biology

Background:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable heart muscle disease.
  • Desmosomal genes are implicated in human familial ARVC.
  • Boxers are predisposed to ARVC.

Purpose of the Study:

  • To identify causative mutations for ARVC in Boxers.
  • To sequence key desmosomal genes in affected Boxers.
  • To compare genetic sequences with control dogs.

Main Methods:

  • Sequencing of exonic and splice site regions of four desmosomal genes (PKP2, JUP, DSP, DSG2).
  • Comparison of sequences from 10 ARVC-affected Boxers and 2 control Labrador Retrievers.
  • Analysis of nucleotide changes for potential pathogenicity.

Main Results:

  • No causative mutations were found in the sequenced desmosomal genes.
  • Single nucleotide polymorphisms were detected but did not alter amino acid sequences.
  • These genetic variations do not appear to cause ARVC in Boxers.

Conclusions:

  • Desmosomal gene mutations associated with human ARVC are not causative in Boxers.
  • Further genomewide studies are needed to identify ARVC genetic loci in dogs.
  • This research excludes specific genes but opens avenues for broader genetic investigation.
Abstract

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