A Novel Homozygous Intronic Variant in TNNT2 Associates With Feline Cardiomyopathy.

ABSTRACT:

Background

Hypertrophic cardiomyopathy (HCM) is a genetic disease of the heart and the most common cause of sudden cardiac death in the young. HCM is considered a disease of the sarcomere owing to the large number of mutations in genes encoding sarcomeric proteins. The riddle lies in discovering how these mutations lead to disease. As a result, treatments to prevent and/or treat HCM are limited to invasive surgical myectomies or ablations. The A31P variant of cardiac myosin binding protein-C, encoded by MYBPC3, was found to be more prevalent in a cohort of Maine Coon cats with HCM. However, other mutations in MYBPC3 and MYH7 have also been associated with HCM in cats of other breeds. In this study, we expand the spectrum of genes associated with HCM in cats.

SUBMITTER: McNamara JW 

PROVIDER: S-EPMC7701303 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature