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

Cells. 2022 Nov 6;11(21):3511. 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.

Keywords: animal model; cellular model; diagnosis; gene therapy; mitochondrial cardiomyopathy; mitochondrial transfer/transplantation; molecular epidemiology; pharmacological approach.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / epidemiology
  • Cardiomyopathies* / genetics
  • DNA, Mitochondrial / genetics
  • Mitochondrial Diseases* / diagnosis
  • Mitochondrial Diseases* / epidemiology
  • Mitochondrial Diseases* / genetics
  • Molecular Epidemiology
  • Myocardium / pathology

Substances

  • DNA, Mitochondrial

Grants and funding

This research was funded by the following funding sources: grant 5001-4001010 from the Start-up Grant for Stem Cell Regenerative Medicine, grant JCYJ20210324114606019 from the Shenzhen Science and Technology Program.