A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy

Kathryn M. Meurs, Michelle M. Norgard, Martina M. Ederer, Kristina P. Hendrix, Mark D Kittleson

Research output: Contribution to journalArticle

106 Scopus citations

Abstract

Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings. Causative mutations have been identified in several sarcomeric genes, including the cardiac myosin binding protein C (MYBPC3) gene. Heritable HCM also exists in a large-animal model, the cat, and we have previously reported a mutation in the MYBPC3 gene in the Maine coon breed. We now report a separate mutation in the MYBPC3 gene in ragdoll cats with HCM. The mutation changes a conserved arginine to tryptophan and appears to alter the protein structure. The ragdoll is not related to the Maine coon and the mutation identified is in a domain different from that of the previously identified feline mutation. The identification of two separate mutations within this gene in unrelated breeds suggests that these mutations occurred independently rather than being passed on from a common founder.

Original languageEnglish (US)
Pages (from-to)261-264
Number of pages4
JournalGenomics
Volume90
Issue number2
DOIs
StatePublished - Aug 2007

Keywords

  • Cardiac
  • Feline
  • Hypertrophic cardiomyopathy
  • Myosin binding protein C

ASJC Scopus subject areas

  • Genetics

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