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

Yang J 1 , Chen S 1 , Duan F 1 , Wang X 2 , Zhang X 1 , Lian B 3 Show all authors , Kou M 1 , Chiang Z 4 , Li Z 1 , Lian Q 1

Affiliations 

  • 1 Cord Blood Bank Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou 510180, China
  • 2 Department of Laboratory Medicine, Pingyang People's Hospital Affiliated to Wenzhou Medical University, Wenzhou 325499, China
  • 3 Adelaide Medical School, University of Adelaide, 30 Frome Rd., Adelaide, SA 5000, Australia
  • 4 Department of Allied Health Science Faculty of Science, Tunku Abdul Rahman University, Ipoh 31900, Malaysia
Cells, 2022 Nov 06;11(21).
PMID: 36359908 DOI: 10.3390/cells11213511

Abstract

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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