Mohammed Shamayel, Bahitham Wesam, Chan Alicia, Chiu Brian, Bamforth Fiona, Sergi Consolato
Department of Lab. Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.
Front Biosci (Elite Ed). 2012 Jan 1;4(5):1706-16. doi: 10.2741/491.
Cardiomyopathies are a heterogeneous group of diseases characterized by impaired heart muscle function. Over the last few years, interest in mitochondrial cardiomyopathies has been galvanized by a number of significant molecular biology discoveries. There is overwhelming evidence that genetic factors play a pivotal role in the pathogenesis of primary cardiomyopathies. Mitochondrial cardiomyopathy is a cardiomyopathy in which the clinical and pathological phenotype result from mitochondrial diseases due to pathogenic mutation in both mitochondrial and/or nuclear genes causing defects in the oxidative phosphorylation system (OXPHOS) in cardiac muscle. We review and provide an update of the current concepts, molecular genetics, clinical features, pathology, diagnostic modalities, and latest therapeutic options in mitochondrial cardiomyopathies specifically caused by mutations in the mitochondrial DNA (mtDNA).
心肌病是一组异质性疾病，其特征为心肌功能受损。在过去几年中，一些重要的分子生物学发现激发了人们对线粒体心肌病的兴趣。有压倒性的证据表明，遗传因素在原发性心肌病的发病机制中起关键作用。线粒体心肌病是一种心肌病，其临床和病理表型由线粒体疾病导致，这些疾病是由于线粒体和/或核基因中的致病突变引起心肌氧化磷酸化系统（OXPHOS）缺陷所致。我们回顾并更新了目前关于线粒体DNA（mtDNA）突变特异性引起的线粒体心肌病的概念、分子遗传学、临床特征、病理学、诊断方法和最新治疗选择。
