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Hypertrophic Cardiomyopathy - Maine Coon Overview

Hypertrophic Cardiomyopathy - Maine Coon
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Description:
Breeds Affected: Maine Coon, Abbysinian, Bengal, Egyptian Mau, Norwegian Forest Cat

One of the most common causes of cardiac disease in cats. The MYBPC3 gene is seen as the candidate (causative) gene leading to the reduction in the myocardium protein.


Category: Cardiorespiratory (Associated with Heart and Lungs)

Gene: MYBPC

Variant Detected: Base Substitution G>C

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Dominant with Incomplete Penetrance

Test Overview: HCM is the most common cardiac disease identified in domestic cats. A colony of a feline model of familial HCM has been produced in the Maine Coon cat. Because of the identification of over 240 mutations in genes that encode for sarcomeric proteins in humans, we hypothesized that a mutation in one of these genes would be responsible for familial HCM in this animal model. After identifying a reduction in the cMyBP-C protein in affected cats, we identified a mutation in the feline gene that is predicted to alter the protein conformation of this gene and results in sarcomeric disruption.

Research Citation(s): Hum Mol Genet. 2005 Dec 1;14(23):3587-93

Associated Breed(s): Maine Coon,  Abyssinian,  Bengal,  LaPerm ,