A MYBPC3 mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy

Meurs and colleagues identified the genetic basis of inherited hypertrophic cardiomyopathy in Maine Coon cats, a common and sometimes fatal heart disease. Studying a colony of affected cats, they mapped and identified a mutation in the MYBPC3 gene, which encodes cardiac myosin binding protein C, a component of the heart muscle's contractile apparatus, paralleling mutations that cause the disease in humans. The discovery enabled a DNA test allowing breeders to screen Maine Coons and make informed mating decisions to reduce the disease's prevalence, and it established the cat as a natural model for human hypertrophic cardiomyopathy. The work exemplified how feline genetics can both improve breed health through carrier screening and contribute to understanding a shared human disease, and it is widely cited in feline cardiology and breeding.