临床方面和遗传因素对猫类HCM严重性和发育的影响
Victoria Korobova1, Yulia Kruglova1
1Moscow State Academy of Veterinary Medicine and Biotechnology Named after K.I. Skryabin, 23 Akademika Skryabina str., Moscow 109472, Russia.
Veterinary sciences
|May 24, 2024
概括
猫的多变性心肌病 (HCM) 与MYBPC3基因突变有关. 同卵性猫患有严重的HCM,而疾病发病率随着年龄的增长而增加,特别是在7岁后.
科学领域:
- 兽医心脏病学 兽医心脏病学
- 遗传学 是一个遗传学.
- 猫科动物医学 猫科动物医学
背景情况:
- 增高性心肌病变 (HCM) 是猫的常见心脏病,通常具有遗传性基础.
- MYBPC3和MYH7基因的突变经常与猫类HCM有关.
- 了解遗传因素和与年龄相关的透性对于诊断和管理至关重要.
研究的目的:
- 调查MYBPC3基因p.A31P突变 (c.91G>C) 异性和同性对猫的HCM严重程度和发育的影响.
- 为了在不同品种和年龄的猫中对象性地检测HCM,比较心声和临床数据.
- 评估与特定的MYBPC3突变相关的HCM与年龄相关的透率.
主要方法:
- 基因分析以确定MYBPC3基因中的p.A31P突变的异合性或同合性.
- 声心图评估,以评估心脏结构和功能.
- 对不同年龄组和品种的猫进行临床评估.
- 统计分析以关联基因型,年龄和HCM严重程度.
主要成果:
- 在研究的103只患有心脏病的猫中,59%的猫被诊断出HCM.
- 在患有HCM的猫中,34%的猫是异合体,26%的猫是p.A31P MYBPC3突变的同合体.
- 同卵性猫表现出中度至重度的HCM,表明高透率和心脏死亡风险增加.
- 随着年龄的增长,HCM的发病率增加,最高的患病率 (44.3%) 在7岁及以上的猫中观察到.
结论:
- MYBPC3基因中的p.A31P突变与猫的严重HCM密切相关,特别是在同卵性动物中.
- HCM表现出与年龄相关的透性,老猫 (≥7岁) 的发病率更高.
- 对MYBPC3突变和年龄的基因定型是评估猫的HCM风险和严重程度的关键因素.
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