Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management

作者：Jinjuan Yang, Shaoxiang Chen, Fuyu Duan, Xiuxiu Wang, Xiaoxian Zhang, Boon Xuan Lian, Meng Kou, Zhixin Chiang, Ziyue Li, Qizhou Lian · 发表于：Cells · 年份：2022 · DOI：10.3390/cells11213511 · 被引用次数：29 · 研究领域：Mitochondrial Function and Pathology、ATP Synthase and ATPases Research、Metabolism and Genetic Disorders

Mitochondrial cardiomyopathy (MCM) is characterized by abnormal heart-muscle structure and function, caused by mutations in the nuclear genome or mitochondrial DNA. The heterogeneity of gene mutations and various clinical presentations in patients with cardiomyopathy make its diagnosis, molecular mechanism, and therapeutics great challenges. This review describes the molecular epidemiology of MCM and its clinical features, reviews the promising diagnostic tests applied for mitochondrial diseases and cardiomyopathies, and details the animal and cellular models used for modeling cardiomyopathy and to investigate disease pathogenesis in a controlled in vitro environment. It also discusses the emerging therapeutics tested in pre-clinical and clinical studies of cardiac regeneration.