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W07-039: Molecular evaluation of the feline myosin heavy chain gene in Ragdoll, Norwegian Forest and Sphynx cats with familial hypertrophic cardiomyopathy

Feline hypertrophic cardiomyopathy (HCM) is the most common cause of heart disease in the adult cat. Affected cats are at risk of sudden death, heart failure or an arterial thrombus. Feline HCM is familial in the Maine Coon (MC), Ragdoll, Sphynx and Norwegian Forest (NWF) cat. In human beings, the disease is associated with a mutation in one of several sarcomeric genes, and the myosin binding protein C (MYBPC) and myosin heavy chain genes are reported most commonly. We previously demonstrated that HCM is associated with a mutation in the MYBC gene in the MC cat. We have collected pedigrees and DNA samples from Ragdolls, NWF and Sphynx cats with familial HCM. The MC cat mutation was not present in any of these breeds. Further evaluation of exons of the MYBPC and two other sarcomeric genes, troponin I and myosin light chain 2 in the Ragdoll and NWF cat have not identified a causative mutation. We hypothesize that a mutation in the myosin heavy chain gene is associated with the disease in the Ragdoll, NWF or Sphynx cat. Although it is unlikely to be the same mutation in all three breeds, it is very possible that all three may have mutations at different locations within this gene. The objective of this study is to identify a causative mutation in the coding or splice site regions of the myosin heavy chain gene in affected cats from these three breeds. (Breed Study)

Grant ID: W07-039

Status: Active

Year Funded: 2007

Amount awarded: $31,555

Investigator: Kathryn M. Meurs, DVM, PhD, DACVIM; Washington State University