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Investigating the Genetic Causes of HCM

Meurs, K.M., et al., Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathy. J Vet Intern Med, 2009. 23(4): p. 840-3.

The most common heart disease in cats is hypertrophic cardiomyopathy (HCM). A causative mutation has been identified in two breeds, the Maine Coon (MC) and Ragdoll that involve the cardiac myosin binding protein C gene (MYBPC3). HCM is thought to be inherited in other breeds as well. The objective of the study was to evaluate a subset of cats from additional breeds with HCM including the British Shorthair (BSH), Norwegian Forest Cat (NWF), Siberian, and Sphynx and to also examine MC cats known to be affected with HCM but lacking the known mutation. Fourteen affected cats among these breeds were evaluated. A causative mutation was not identified in the eight candidate genes studied, although several single nucleotide polymorphisms were detected. The study concluded that mutations within these cardiac genes do not appear to be the only cause of HCM in these breeds. Further evaluation of additional cardiac genes is considered warranted. (VT)
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Related articles:
Meurs, K.M., et al., A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics, 2007. 90(2): p. 261-4.
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Meurs, K., et al., A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet, 2005. 14(23): p. 3587-3593.
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