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.