02808-MOU: Identification of a Second Genetic Risk Allele(s) Associated with the Development of Arrhythmogenic Right Ventricular Cardiomyopathy in the Boxer Dog

Abstract

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited heart disease diagnosed most commonly in the Boxer dog. Investigators previously identified the first known causative mutation for ARVC in the dog in the striatin gene. However, this mutation does not explain all affected canine cases. As in the human form of ARVC, there appears to be more than one genetic cause of this disease in the Boxer dog. To identify a second causative variant, DNA samples from Boxer dogs with confirmed Boxer ARVC that are negative for the striatin mutation will be whole genome sequenced to find a second genetic variant that is causative for the development of ARVC in the Boxer dog. The investigators previously used a similar approach to successfully identify a second causative mutation for dilated cardiomyopathy in the Doberman Pinscher. Ultimately, this information will improve understanding of the pathophysiology of ARVC, help improve treatment modalities, and provide information to develop a strategy to gradually reduce the prevalence of the additional variant and this disease.

Funding for the research is provided through the collaborative efforts and generosity of the American Boxer Charitable Foundation. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress.

Publication(s)

None at this time.