Chang Audrey N, Potter James D
Department of Molecular and Cellular Pharmacology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.
Heart Fail Rev. 2005 Sep;10(3):225-35. doi: 10.1007/s10741-005-5252-6.
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.
本综述旨在简要总结在肌节和细胞骨架蛋白中鉴定出的与扩张型心肌病（DCM）相关的突变，并讨论功能研究确定的这些突变的报道效应，以及与受影响蛋白质的已知结构的关系。肌节蛋白中的单个错义突变导致与肌膜和细胞骨架蛋白突变所引起的疾病相似的机制仍然未知。然而，与DCM相关的多种突变表明受影响的蛋白质共享一种复杂机制。这里综述的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），以及细胞骨架的肌联蛋白、T-帽、结蛋白、纽蛋白和肌肉LIM蛋白（MLP）。
