Department of Veterinary Clinical Sciences, College of Veterinary Medicine, North Carolina State University, A227, Main CVM, 1060 William Moore Drive, Raleigh, NC, 27607, USA.
Anim Genet. 2021 Aug;52(4):542-544. doi: 10.1111/age.13074. Epub 2021 May 10.
Hypertrophic cardiomyopathy (HCM) is the most common cause of heart disease in the domestic cat with a genetic predisposition in a few breeds. In the Maine Coon and Ragdoll breeds, two variants associated with the HCM phenotype have been identified in the cardiac myosin binding protein C gene (MYBPC3; p.Ala31Pro and p.Arg820Trp respectively), and a single variant has been identified in the myosin heavy chain gene (MYH7; p.Glu1883Lys) in one domestic cat with HCM. It is not known if these variants influence the development of HCM in other cohorts of the feline population. The objective of this study was to evaluate the presence of the known MYBPC3 and MYH7 variants in a population of cats with HCM. DNA was isolated from samples collected from non-Ragdoll and non-Maine Coon domestic cats diagnosed with HCM through the North Carolina State University College of Veterinary Medicine and genotyped for the three variants. One-hundred and three DNA samples from cats with HCM were evaluated from domestic shorthair, domestic longhair and purebred cats. All samples were wt for the MYBPC3 and MYH7 variants. Although this study was limited by its inclusion of cats from one tertiary hospital, the lack of these MYBPC3 and MYH7 variants in this feline HCM population indicates that the clinical utility of genetic testing for these variants may be isolated to the two cat breeds in which these variants have been identified. Further studies to identify the causative variants for the feline HCM population are warranted.
肥厚型心肌病(HCM)是家猫中最常见的心脏病病因,少数品种存在遗传易感性。在缅因猫和布偶猫品种中,已在心肌肌球蛋白结合蛋白 C 基因(MYBPC3;分别为 p.Ala31Pro 和 p.Arg820Trp)中鉴定出与 HCM 表型相关的两个变体,在一只患有 HCM 的家猫中也已在肌球蛋白重链基因(MYH7;p.Glu1883Lys)中鉴定出一个变体。尚不清楚这些变体是否会影响其他猫群中 HCM 的发展。本研究的目的是评估已知的 MYBPC3 和 MYH7 变体在家猫 HCM 群体中的存在情况。从北卡罗来纳州立大学兽医学院诊断患有 HCM 的非布偶猫和非缅因猫的样本中分离出 DNA,并对这三种变体进行基因分型。对来自家短毛猫、家长毛猫和纯种猫的 103 份患有 HCM 的猫的 DNA 样本进行了评估。所有样本均为 MYBPC3 和 MYH7 变体的 wt。尽管本研究受到其纳入来自一家三级医院的猫的限制,但这些猫的 HCM 群体中缺乏这些 MYBPC3 和 MYH7 变体表明,针对这些变体的基因检测的临床效用可能仅限于已鉴定出这些变体的两个猫品种。需要进一步研究以确定家猫 HCM 群体的致病变体。