Sarcomeric protein mutations in dilated cardiomyopathy
Sarcomeric protein mutations in dilated cardiomyopathy
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DOI：
10.1007/s10741-005-5252-6
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发表时间：
2005-09-01
影响因子：
4.6
通讯作者：
Potter, JD
中科院分区：
文献类型：
--
作者：
Chang, AN;Potter, JD
这篇综述的目的是简要总结在肌节和细胞骨架的蛋白质中发现的DCM相关突变，并讨论由功能研究确定的突变的报道效果，以及与已知的受影响蛋白质结构的关系。肌节蛋白的单个错义突变可导致与肌膜和细胞骨架蛋白突变引起的疾病相似的疾病的机制尚不清楚。然而，与DCM相关的多种突变表明，受影响的蛋白质共享一个复杂的机制。这里回顾的DCM突变包括肌节的β -肌球蛋白重链（β - mhc）、肌球蛋白结合蛋白-C （MyBP-C）、肌动蛋白、α -原肌球蛋白（Tm）、肌钙蛋白T （TnT）、肌钙蛋白I （TnI）、肌钙蛋白C (TnC)，以及细胞骨架的肌凝蛋白、T-cap、desmin、血管蛋白和肌肉LIM蛋白（MLP）。
This review aims to provide a concise summary of the DCM associated mutations identified in the proteins of the sarcomere and cytoskeleton, and discuss the reported effects of the mutations, as determined by functional studies, and in relation to the known structure of the protein affected. The mechanisms by which single missense mutations in the proteins of the sarcomere can lead to similar diseases as those caused by mutations in the proteins of the sarcolemma and cytoskeleton, are still unknown. However, a wide variety of mutations being associated with DCM suggests a complex mechanism shared by the proteins affected. The DCM mutations reviewed here are those of the beta-myosin heavy chain (beta-MHC), myosin binding protein-C (MyBP-C), actin, alpha- tropomyosin (Tm), troponin T (TnT), troponin I (TnI), troponin C (TnC), of the sarcomere, and titin, T-cap, desmin, vinculin, and muscle LIM protein (MLP) of the cytoskeleton.