Tuyển tập các báo cáo nghiên cứu về bệnh học thý y được đăng trên tạp chí Acta Veterinaria Scandinavica cung cấp cho các bạn kiến thức về bệnh thú yđề tài: Hypertrophic cardiomyopathy in young Maine Coon cats caused by the cMyBP-C mutation - the clinical significance of having the mutation. | Godiksen et al. Acta Veterinaria Scandinavica 2011 53 7 http content 53 1 7 AVS ACTAVETERINARIA dmov cc a SCANDINAVICA RESEARCH Open Access Hypertrophic cardiomyopathy in young Maine Coon cats caused by the cMyBP-C mutation - the clinical significance of having the mutation Mia TN Godiksen1 2 Sara Granstr0m1 2 J0rgen Koch2 Michael Christiansen1 Abstract Background In Maine Coon MC cats the C mutation in the gene MYBPC3 coding for cardiac myosin binding protein C cMyBP-C is associated with feline hypertrophic cardiomyopathy fHCM . The mutation causes a substitution of an alanine for a proline at residue 31 of cMyBP-C. The pattern of inheritance has been considered autosomal dominant based on a single pedigree. However larger studies are needed to establish the significance of cats being heterozygous or homozygous for the mutation with respect to echocardiographic indices and the probability of developing fHCM. The objective of the present study was to establish the clinical significance of being homozygous or heterozygous for the cMyBP-C mutation in young to middle-aged cats. Methods The cohort consisted of 332 MC cats 282 cats 4 years 85 . All cats were examined by 2-D and M-mode echocardiography. DNA was extracted from blood samples or buccal swabs and screened for the cMyBP-C mutation in exon 3 of the gene using polymerase chain reaction followed by DNA sequencing. Results The fHCM prevalence was in the cohort. Eighteen cats were homozygous and 89 cats were heterozygous for the mutation. The odds ratio for having fHCM for homozygous cats was 95 confidence interval - when the group of equivocal cats was categorized as non-affected. Overall 50 of the cats that were homozygous for the mutation had fHCM. heterozygosity was not associated with a significant odds ratio for fHCM. In cats in the 4 to 6 years of age range a similar non significant odds ratio was seen in heterozygous cats. .
