Takeda Nobuakira
Department of General Medicine, Aoto Hospital, Jikei University School of Medicine, Tokyo, Japan.
Int J Mol Med. 2003 Jan;11(1):13-6.
Idiopathic cardiomyopathy is reviewed from molecular standpoint. About a half of all patients with hypertrophic cardiomyopathy show intra-familial occurrence. In familial hypertrophic cardiomyopathy, nine gene abnormalities have been discovered in the sarcomere, i.e. the genes of beta cardiac myosin heavy chain, cardiac troponin T, alpha-tropomyosin, cardiac myosin binding protein-C, essential or regulatory myosin light chain, cardac troponin I, alpha-cardiac actin, and titin. Sudden death can occur in patients with familial-type hypertrophic cardiomyopathy with abnormalities of the cardiac troponin T or troponin I gene, even if hypertrophy is not marked. Some cases of familial dilated cardiomyopathy show gene abnormalities for cytoskeletal components such as desmin and laminin A/C. Mutations of the delta-sarcoglycan gene have also been discovered in familial or sporadic dilated cardiomyopathy. Mutations in mitochondrial genes have been observed in both hypertrophic and dilated cardiomyopathy. It is postulated that chronic viral myocarditis may sometimes lead to dilated cardiomyopathy, and hepatitis C virus is also thought to be an etiological factor. Immunological abnormalities have also been reported, such as autoantibodies against myosin, beta-receptors, ADP/ATP carrier proteins.
从分子角度对特发性心肌病进行综述。在所有肥厚型心肌病患者中，约有一半呈现家族内发病情况。在家族性肥厚型心肌病中，已在肌节中发现9种基因异常，即β心肌肌球蛋白重链、心肌肌钙蛋白T、α - 原肌球蛋白、心肌肌球蛋白结合蛋白 - C、必需或调节性肌球蛋白轻链、心肌肌钙蛋白I、α - 心肌肌动蛋白和肌联蛋白的基因。即使肥厚不明显，家族性肥厚型心肌病且伴有心肌肌钙蛋白T或肌钙蛋白I基因异常的患者也可能发生猝死。一些家族性扩张型心肌病病例显示细胞骨架成分如结蛋白和层粘连蛋白A/C的基因异常。在家族性或散发性扩张型心肌病中也发现了δ - 肌聚糖基因的突变。在肥厚型和扩张型心肌病中均观察到线粒体基因突变。据推测，慢性病毒性心肌炎有时可能导致扩张型心肌病，丙型肝炎病毒也被认为是一个病因。还报道了免疫异常情况，如针对肌球蛋白、β受体、ADP/ATP载体蛋白的自身抗体。
