The role of cytoskeletal proteins in cardiomyopathies
The role of cytoskeletal proteins in cardiomyopathies
复制标题
DOI：
10.1016/s0955-0674(98)80096-3
复制
发表时间：
1998-02-01
影响因子：
7.5
通讯作者：
Towbin, JA
中科院分区：
文献类型：
--
作者：
Towbin, JA
心肌病是儿童和成人的严重心肌疾病，会导致发病率和过早死亡。这些疾病包括肥厚型心肌病、扩张型心肌病和限制性心肌病。最近，7个编码肌节蛋白的基因突变已被确定为家族性肥厚型心肌病的原因。这些基因包括编码β-肌球蛋白重链、α-原肌球蛋白、心肌肌钙蛋白T、肌球蛋白结合蛋白-C、肌球蛋白基本轻链、肌球蛋白调节轻链和肌钙蛋白I的基因，最近对扩张型心肌病的理解也取得了进展，似乎细胞骨架蛋白发挥了核心作用。Dystrophin是X连锁扩张型心肌病的致病基因，也是Duchenne和Becker肌营养不良症的致病基因，在心肌细胞和心肌细胞功能中发挥重要作用。其他细胞骨架蛋白的突变，如Metavinculin、α-肌营养不良聚糖、α-和γ-肌聚糖，以及肌肉LIM蛋白的突变也被发现导致扩张型心肌病，这表明细胞骨架蛋白在心脏功能中发挥着核心作用。
Cardiomyopathies are serious heart muscle disorders in children and adults, which result in morbidity and premature death. These disorders include hypertrophic cardiomyopathy, dilated cardiomyopathy and restrictive cardiomyopathy. Recently, mutations in seven genes, all encoding sarcomeric proteins, have been identified as causes of familial hypertrophic cardiomyopathy. The genes include those encoding the beta-myosin heavy chain, alpha-tropomyosin, cardiac troponin T, myosin binding protein-C, myosin essential light chain, myosin regulatory light chain, and troponin I. Advances in the understanding of dilated cardiomyopathy have been made recently as well and it appears as if cytoskeletal proteins play a central role. Dystrophin has been identified as the gene responsible for X-linked dilated cardiomyopathy and this protein, which is also responsible for Duchenne and Becker muscular dystrophy, plays an important role in myocyte and cardiomyocyte function. Mutations in other cytoskeletal proteins such as metavinculin, alpha-dystroglycan, alpha- and gamma-sarcoglycan, and muscle LIM protein have also been found to result in dilated cardiomyopathy, suggesting that cytoskeletal proteins play a central role in cardiac function.