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Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation

Jade Raffle1, Jose Novo Matos2, Marsha Wallace2

  • 1Clinical Science and Services, Royal Veterinary College, London, UK. jraffle@rvc.ac.uk.

Scientific Reports
|January 31, 2025
PubMed

Insights

Researchers identified genetic variants linked to feline hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM). These findings suggest shared genetic factors between HCM and RCM in cats, similar to humans.

Area of Science:

  • Veterinary Genetics
  • Cardiovascular Research
  • Comparative Medicine

Background:

  • Cardiomyopathies are common inherited heart diseases in cats and humans.
  • Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) are significant feline cardiac conditions.
  • Understanding the genetic basis of feline cardiomyopathies aids comparative research.

Purpose of the Study:

  • To identify novel genetic variants associated with HCM and RCM in cats.
  • To investigate potential shared genetic backgrounds between HCM and RCM phenotypes in felines.
  • To utilize a targeted gene panel based on human cardiomyopathy genes.

Main Methods:

  • Phenotyping cats for HCM/RCM using echocardiography and necropsy.
  • DNA extraction from blood samples for genetic analysis.
  • Targeted next-generation sequencing in two feline cohorts (across-breed and within-breed Birman).
  • Variant discovery using Genome Analysis Toolkit and genomic association analyses.

Main Results:

  • Identified genetic variants associated with HCM and RCM susceptibility in Birman cats.
  • Found variants in sarcomeric genes (ACTC1, ACTN2, MYH7, TNNT2) and a non-sarcomeric gene (CSRP3).
  • Results suggest a partial overlap in genetic background between HCM and RCM in cats.

Conclusions:

  • Genetic variants in specific sarcomeric and non-sarcomeric genes are linked to feline HCM and RCM.
  • Findings support the hypothesis of shared genetic underpinnings for HCM and RCM in cats, mirroring human conditions.
  • This research provides insights for comparative cardiology and translational medicine.

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