Fries, R., A. M. Heaney, et al. (2008). “Prevalence of the myosin-binding protein C mutation in Maine Coon cats.” J Vet Intern Med 22(4): 893-896.
The most common cardiac disease of cats is hypertrophic cardiomyopathy (HCM). In several cat breeds, including the Maine Coon, the disease is inherited as an autosomal dominant trait. Previously, a single base pair change in the myosin-binding protein C (MYBPC3) gene, which changes a conserved amino acid and alters protein conformation, was been identified in some Maine Coon cats with HCM. The prevalence of the MYBPC3 mutation in the Maine Coon cat population is not known, but genetic screening has allowed determination of the percentage of genetically affected cats worldwide. This retrospective study reviewed records of 3,310 samples submitted for evaluation of the Maine Coon MYBPC3 mutation to the Veterinary Cardiac Genetics Laboratory database at Washington State University. In this population of cats, Maine Coons accounted for all the samples positive for this mutation. The worldwide percentage of Maine Coon cats carrying the MYBPC3 mutation was 34%.
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Meurs, K., X. Sanchez, et al. (2005). “A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.” Hum Mol Genet 14(23): 3587-3593.