01753: Identification of Genetic Factors That Alter the Severity of Cardiomyopathy

Grant Amount: $73,343

Kathryn M Meurs, DVM, PhD; North Carolina State University

January 1, 2013 - December 31, 2014

Sponsor(s): Australian Terrier International, Collie Health Foundation, English Cocker Spaniel Club of America, Portuguese Water Dog Foundation, Samoyed Club of America Education & Research Foundation, Standard Schnauzer Club of America, Starlight Fund, Welsh Terrier Club of America, Inc.

Breed(s): Australian Terrier, American Foxhound, Great Pyrenees, Flat-Coated Retriever, Saluki, Boxer, Scottish Deerhound, Clumber Spaniel

Research Program Area: Cardiology

Abstract

Arrhythmogenic right ventricular cardiomyopathy is a genetic-based heart disease in adult dogs that was recently found to be due to a deletion mutation in the striatin gene. Dogs with this genetic mutation can suffer from irregular heartbeat, loss of consciousness and sudden death. Dr. Meurs' lab has demonstrated that Boxer dogs with 2 copies of a genetic deletion (homozygous) are most likely to have the more severe form of the disease, however dogs with 1 copy of the mutation are more likely to have variable disease; some will become quite sick while others will remain free of clinical signs. The mechanism for the variability in clinical signs is unknown but is thought to be associated with the concurrent inheritance of other genetic factors. Dr. Meurs' research will determine if additional genetic factors exist, thus greatly improving our ability to use and interpret the genetic test for the striatin mutation.

Publication(s)