心肌肌钙蛋白T基因突变在心肌病发病机制中的研究进展

肥厚型和扩张型心肌病中，基因缺陷分别占发病的50％和35％，其病理生理机制，主要包括肌小节蛋白基因突变引起的收缩力产生缺陷，细胞骨架蛋白基因突变引起的收缩力传递缺陷等。心肌肌钙蛋白T将肌钙蛋白C和肌钙蛋白I连接到肌动蛋白和原肌球蛋白上，在心肌细胞收缩和舒张过程中发挥重要作用。在肥厚型和扩张型心肌病中发现了多种心肌肌钙蛋白T的基因突变，围绕心肌肌钙蛋白T的研究有助于阐明心肌病的发病机制。本文总结了心肌肌钙蛋白T基因突变在心肌病发病机制中的研究情况。

Cardiac Troponin T Gene Mutations in Cardiomyopathy

Gene defects may account for 50% of hypertrophic cardiomyopathy（HCM） and 35 % of dilated cardiomyopathy （DCM）. Pathophysiological mechanisms that implicated in HCM and DCM include defective force generation, due to mutations in sarcomeric protein genes; defective force transmission, due to mutations in cytoskeletal protein genes. Cardiac troponin C and cardiac troponin I are linked to actin and tropomyosin by cardiac troponin T, which play an important role in cardiac contractility and relaxation. Many cardiac troponin T gene mutations have been found in HCM and DCM, and study of cardiac troponin T gene mutations may help to elucidate the pathogenesis of cardiomyopathy. In this review, we focus on cardiac troponin T gene mutations in cardiomyopathy.