02 June 2008

News from the WINN Foundations HCM / DNA research

Posted to Sphynx Breeders list:

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

12 Month Progress Report - 2007
Principal Investigator: Kathryn M. Meurs, DVM, Ph.D.
Diplomate ACVIM (Cardiology)
Professor - Dept of Veterinary Clinical Sciences
Washington State University-College of VeterinaryMedicine
Pullman, WA 99164
Phone: 509-335-0817


Email: meurs@vetmed.wsu.edu

Hypothesis: A mutation in the exonic or splice siteregion 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 andexonic/intronic splice site regions of the myosin heavy chain gene in Ragdoll, Sphynx and NorwegianForest cats with familial hypertrophic cardiomyopathyby 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 additionalgenes 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.

Read more & Visit the WINN Foundation website

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