中国临床药理学杂志2024，Vol.40Issue(1)：130-134,5.DOI:10.13699/j.cnki.1001-6821.2024.01.027
编码心肌肌小节的基因突变与肥厚型心肌病相关研究现状
Research status of gene mutation encoding cardiomyocyte sarcomere and hypertrophic cardiomyopathy
摘要
Abstract
Mutations in myosin heavy chain 7(MYH7)and myosin binding protein C3(MYBPC3)genes encoding thick filaments are the main cause of hypertrophic cardiomyopathy(HCM),while a small part of HCM is caused by mutations of troponin C1,slow skeletal and cardiac type(TNNC1),troponin T2,cardiac type(TNNT2),troponin I3,cardiac type(TNNI3),actin alpha cardiac muscle 1(ACTC1),and tropomyosin 1(TPM1)genes encoding thin filaments.In this review,we mainly introduce the detailed mechanism and research status of HCM caused by mutations of the gene encoding cardiomyocyte sarcomere in the past few years,in order to provide reference for further study of the pathogenesis and treatment of HCM.关键词
肥厚型心肌病/心肌肌小节/基因突变/发病机制Key words
hypertrophic cardiomyopathy/cardiomyocyte sarcomere/gene mutation/pathogenesis分类
医药卫生引用本文复制引用
陈亚芬,王成怡,于丽霞,董树素,陈丽明,王海英..编码心肌肌小节的基因突变与肥厚型心肌病相关研究现状[J].中国临床药理学杂志,2024,40(1):130-134,5.基金项目
国家自然科学基金青年基金资助项目(81703490) （81703490）
山东省医药卫生科技发展计划基金资助项目(202002061311) （202002061311）
济宁医学院教师科研扶持基金资助项目(JYFC2019KJ013) （JYFC2019KJ013）
济宁医学院大学生创新训练计划基金资助项目(cx2022054z) （cx2022054z）
