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

被引：18

作者：

Yang, Jinjuan ^{[1
]}

Chen, Shaoxiang ^{[1
]}

Duan, Fuyu ^{[1
]}

Wang, Xiuxiu ^{[2
]}

Zhang, Xiaoxian ^{[1
]}

Lian, Boonxuan ^{[3
]}

Kou, Meng ^{[1
]}

Chiang, Zhixin ^{[4
]}

Li, Ziyue ^{[1
]}

Lian, Qizhou ^{[1
,5
,6
]}

机构：

[1] Guangzhou Med Univ, Cord Blood Bank Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou 510180, Peoples R China

[2] Wenzhou Med Univ, Dept Lab Med, Pingyang Peoples Hosp, Wenzhou 325499, Peoples R China

[3] Univ Adelaide, Adelaide Med Sch, 30 Frome Rd, Adelaide, SA 5000, Australia

[4] Tunku Abdul Rahman Univ, Dept Allied Hlth Sci, Fac Sci, Ipoh 31900, Malaysia

[5] Shenzhen Hong Kong Univ Hosp, Dept Surg, Shenzhen 518053, Peoples R China

[6] Univ Hong Kong, State Key Lab Pharmaceut Biotechnol, Hong Kong 999077, Peoples R China

来源：

CELLS | 2022年 / 11卷 / 21期

关键词：

mitochondrial cardiomyopathy; molecular epidemiology; diagnosis; animal model; cellular model; gene therapy; pharmacological approach; mitochondrial transfer; transplantation; PLURIPOTENT STEM-CELL; PERMEABILITY TRANSITION; HEART; DISEASE; PATIENT; TRANSPLANTATION; DYSFUNCTION; DEFICIENCY; CARDIOMYOCYTES; INVOLVEMENT;

D O I：

10.3390/cells11213511

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页数：19

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