印第安人中患有多变性心肌病的sarcomeric基因变体:一个范围审查
Linda Koshy1, Sanjay Ganapathi2, Panniyammakal Jeemon3
1Centre for Advance Research & Excellence in Heart Failure, Chitra Tirunal Institute for Medical Sciences & Technology, Thiruvananthapuram, Kerala, India.
The Indian journal of medical research
|October 3, 2023
概括
这次审查确定了与印度高性心肌病 (HCM) 患者突然心脏死亡相关的sarcomere基因变异. 这些发现有助于建立一个新的数据库,用于诊断和预测HCM风险.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 分子生物学分子生物学
背景情况:
- 增高性心肌病变 (HCM) 是一种遗传性心脏病.
- 它是年轻成年人突然心脏死亡 (SCD) 的主要原因.
- 瘤基因突变是HCM和SCD的关键诊断和预后因素.
研究的目的:
- 在印度HCM患者中全面审查与SCD相关的sarcomere蛋白变体的文献.
- 在这个人群中识别和编译已知的致病变体.
- 为HCM研究建立一个特定种群的遗传数据库.
主要方法:
- 一个系统的范围审查多个科学数据库 (Medline,Scopus,科学网,谷歌学者).
- 纳入标准集中在全文文章中,报告南亚印第安人HCM患者中sarcomeric基因的遗传查.
- 搜索策略结合了与遗传学,HCM和人口相关的术语.
主要成果:
- 19篇文章报告了MYH7,MYBPC3,TNNT2,TNNI3和TPM1基因中的致病性或可能致病性 (P/LP) 变异.
- 其中包括16个单独的异质合体,一个de novo和一个与SCD相关的二代基 (MYH7 / TPM1) 突变.
- 功能研究和分离分析支持了这些变体在HCM病理学中的作用.
结论:
- 本综述巩固了与印度HCM患者中SCD相关的P/LP变异.
- 同卵性,新生和二基因突变与更严重的HCM表型相关.
- 汇总的数据形成了HCMvar数据库,帮助临床医生和研究人员识别诊断和预后标志物.
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