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J Vet Intern Med. 2010 May-Jun;24(3):527-32. doi: 10.1111/j.1939-1676.2010.0514.x. Epub 2010 Apr 16.

Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats.

Author information

1
Clinic of Small Animal Medicine, Ludwig-Maximilians-University, Munich, Germany. gwess@lmu.de

Abstract

BACKGROUND:

Hypertrophic cardiomyopathy (HCM) is an inherited autosomal dominant trait in cats. The A31P single nucleotide polymorphism (SNP) in the myosin binding protein C 3 gene is thought to be the causative mutation in Maine Coon cats. Additionally, the A74T SNP is offered as a genetic test for HCM.

OBJECTIVES:

To evaluate the genetic association between the above-mentioned SNPs and phenotypes.

ANIMALS:

Eighty-three Maine Coon cats and 68 cats of other breeds.

METHODS:

The study was performed prospectively. Cats were phenotyped as healthy or HCM with echocardiography. Taqman genotyping assays were used for genotyping; results were confirmed by sequencing analysis.

RESULTS:

A31P was found in 18/83 (22%) Maine Coon cats. Fifteen of 18 Maine Coons (83%) with the A31P mutation were healthy on echocardiographic examination (mean age 65 months). A74T was present in 28/79 (35%) of Maine Coons and in 42/68 (62%) of other cat breeds. Twenty-two of 28 (79%) of Maine Coons and 21/42 (62%) of other breed cats with the A74T mutation were healthy at a mean age of 72 months and 91 months, respectively. Of 12 Maine Coons with HCM, 9 (75%) were genotype-negative for A31P and 6 (50%) for A74T. Allele frequencies did not differ significantly (P= .47) between phenotype groups. None of the evaluated genetic tests was able to provide useful predictive information of disease outcome.

CONCLUSIONS AND CLINICAL IMPORTANCE:

The value of currently available genetic tests is low in the cats of this study. The mutations analyzed appear to have a low penetrance, and even homozygote cats can remain healthy.

PMID:
20412438
DOI:
10.1111/j.1939-1676.2010.0514.x
[Indexed for MEDLINE]
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