HCM
Article from University Clinic Giessen 06.02.2008

New to the HCM gene test of the medical small animal hospital of the Ludwig Maximilians University in Munich was accomplished a study to the two gene tests on HCM, available in Germany, with Maine Coons. The result shows that the gene test does not bring anything. The study resulted in that Maine Coons with HCM are just as frequently positively tested in the gene test, as Maine Coons without HCM.

Therefore the investment is not worthwhile itself into a gene test simply. In the following one we printed the result of the study, which was presented on the last weekend in the context of a lecture on a specialized congress for the animal medical profession in pouring. Genetic association of the A31P- and A74T-Polymorphism with the feline hypertrophy cardiomyopathy with the Maine Coon C. Schinner, K. Weber, K. Hartmann, G. Wess, department for cardiology of the medical small animal hospital of the Ludwig Maximilians university Munich introduction: The hypertrophy cardiomyopathy (HCM) is the most frequent feline heart illness with autosomal dominant hereditary course and varying penetrance. The A31P- and A74T-polymorphism (SNPs) in the cardinal Myosin being thing protein C3-Gen (MYBPC3) are regarded at present as causal mutations with Maine Coon cats. In practice ultrasonic diagnoses deviate frequently from the genotype. From breeder as well as veterinary side is unclear, how with heart-healthy genotype positive cats will proceed are. A goal of the study was therefore the evaluation of the clinical association of both SNPs as well as the evaluation of the clinical validity of gene tests already marketed. Material and methods: 83 Maine Coon cats and 68 cats of different races entered study. Female animals had to be older as 36 months, male older than 24 months.

The phenotype "heart-healthy" or "HCM" had to be clear to assign. The phenotypic took place by means of heart ultrasonic, the genotypes by means of Taqman® Genotyping Assays. Results: 21,13% of the heart-healthy animals were positive in the gene test for the A31P- and 32.84% for the A74T-SNP. 75% of the HCM group carried the healthy allele concerning the A31P- and 50% concerning the A74T-SNPs. The allele frequencies did not differ between the groups of phenotypes significantly. On the basis the available study population no reference existed that gene tests already marketed possess a predicative value. A computer-assisted protein analysis arranged the effect of the SNPs on the protein as benign. The A31PPolymorphismus is specific for Maine Coons, while the A74T-polymorphism occurs also at other cat races.

Conclusions: With the examined patient number no association was found between the HCM and the examined Polymorphism. The gold standard for the breed selection exists further in the annual echocardiographs investigation.