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 |
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引用本文: | 冯娟,;张连峰. 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[J]. 中国实验动物学杂志, 2007, 0(9): 555-558 |
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作者姓名: | 冯娟, 张连峰 |
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作者单位: | [1]中国医学科学院实验动物研究所,中国协和医学院比较医学中心,北京100021 |
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摘 要: | 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。
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关 键 词: | 心肌肌钙蛋白T 肥厚型心肌病 扩张型心肌病 基因突变 |
Cardiac Troponin T Gene Mutations in Cardiomyopathy |
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Affiliation: | FENG Juan, ZHANG Lian-feng (Genetic Center, Institute of Laboratory Animal Science,Beijing 100021, China) |
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Abstract: | 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. |
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Keywords: | Cardiac troponin T Hypertrophic cardiomyopathy Dilated cardiomyopathy Mutations |
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