Research status of gene mutation encoding cardiomyocyte sarcomere and hypertrophic cardiomyopathy
10.13699/j.cnki.1001-6821.2024.01.027
- VernacularTitle: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
- Author:
Ya-Fen CHEN
1
;
Cheng-Yi WANG
;
Li-Xia YU
;
Shu-Su DONG
;
Li-Ming CHEN
;
Hai-Ying WANG
Author Information
1. 济宁医学院临床医学院,山东济宁 272067
- Keywords:
hypertrophic cardiomyopathy;
cardiomyocyte sarcomere;
gene mutation;
pathogenesis
- From:
The Chinese Journal of Clinical Pharmacology
2024;40(1):130-134
- CountryChina
- Language:Chinese
-
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.
