Molecular evaluation of the feline myosin heavy chain gene in Ragdoll, Norwegian Forest and Sphynx cats with familial hypertrophic cardiomyopathy
Kathryn M. Meurs, DVM, Ph.D.
Diplomate ACVIM (Cardiology)
Professor
Dept of Veterinary Clinical Sciences
Washington State University-College of Veterinary Medicine
Pullman, WA 99164
Phone: 509-335-0817
Email: meurs@vetmed.wsu.edu
Hypothesis: A mutation in the exonic or splice site region of the myosin heavy chain gene is responsible for familial hypertrophic cardiomyopathy in the Ragdoll, Sphynx or Norwegian Forest cat.
Objective of the Study: To evaluate the exonic and exonic/intronic splice site regions of the myosin heavy chain gene in Ragdoll, Sphynx and Norwegian Forest cats with familial hypertrophic cardiomyopathy by PCR based sequencing.
Results: Although myosin heavy chain gene is the most commonly mutated gene in human beings, we did not find a causative mutation for hypertrophic cardiomyopathy in any of these breeds. We did identify several single nucleotide polymorphisms (SNPs) that are base pair changes that are shown NOT to be responsible for the disease since they do not segregate only with the affected cats, do not change the amino acid or do not appear to change the protein produced. Although the MYH7 gene does not appear to be causative for hypertrophic cardiomyopathy in these breeds, we have continued the study by starting to evaluate additional genes known to cause the disease in people. Additionally, we have submitted an abstract for presentation on this work at the American College of Veterinary Internal Medicine meeting in San Antonio, Texas in June 2008 and we have started a publication on this work that should be submitted within the next 4-8 weeks.