Peer-reviewed veterinary case report
Genetic mutations linked to heart disease in Maine Coon and other cats
By Wess, G et al.·Published in Journal of veterinary internal medicine·2010·Clinic of Small Animal Medicine, Germany·View original on PubMed →
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Original publication title: Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats.
- Species:
- cat
Plain-English summary
A group of Maine Coon cats was studied to see if certain genetic mutations were linked to hypertrophic cardiomyopathy (HCM), a heart condition that can be inherited. Out of 83 Maine Coons, 22% had the A31P mutation, but most of those cats were healthy. Another mutation, A74T, was found in 35% of Maine Coons, with many also appearing healthy. The research showed that these genetic tests did not reliably predict whether a cat would develop HCM, as many cats with the mutations remained symptom-free.
People also search for: Maine Coon cat heart disease · hypertrophic cardiomyopathy in cats · cat genetic testing for heart problems
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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/20412438/