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Cellular pathophysiology of Friedreich's ataxia cardiomyopathy

Jarmon G Lees1, Marek Napierala2, Alice Pébay3

  • 1O'Brien Institute Department, St Vincent's Institute of Medical Research, Fitzroy, Victoria 3065, Australia; Department of Medicine, The University of Melbourne, Parkville, Victoria 3010, Australia.

International Journal of Cardiology
|November 19, 2021
PubMed

Insights

Friedreich's ataxia (FRDA) cardiomyopathy involves non-myocytes. This review explores cardiac non-myocyte roles in FRDA pathogenesis, highlighting vascular and autonomic dysfunction in disease progression.

Area of Science:

  • Cardiology
  • Genetics
  • Cell Biology

Background:

  • Friedreich's ataxia (FRDA) is an inherited neuromuscular disorder.
  • Cardiomyopathy is the primary cause of early mortality in FRDA patients.
  • Current treatments do not slow the progression of FRDA cardiomyopathy.

Purpose of the Study:

  • To review the cellular mechanisms and non-myocyte involvement in FRDA cardiomyopathy pathogenesis.
  • To synthesize current evidence on the role of cardiac non-myocytes in FRDA.

Main Methods:

  • Literature review of existing studies on FRDA and cardiac pathology.
  • Analysis of cellular mechanisms contributing to FRDA cardiomyopathy.
  • Examination of the role of non-myocyte cell types in disease progression.

Main Results:

  • FRDA cardiomyopathy involves cardiomyocyte hypertrophy, apoptosis, and fibrosis.
  • Cardiac non-myocytes, including vascular cells, autonomic neurons, and inflammatory cells, are implicated in FRDA pathogenesis.
  • Diseased vasculature and autonomic dysfunction may contribute to FRDA cardiac pathologies like necrosis, fibrosis, and arrhythmia.

Conclusions:

  • Cardiac non-myocytes play a significant role in the development and progression of FRDA cardiomyopathy.
  • Understanding non-myocyte involvement is crucial for developing future therapeutic strategies for FRDA.
  • Further research into cellular mechanisms involving non-myocytes could lead to treatments for FRDA cardiomyopathy.

Keywords:
Autonomic nervous systemCardiomyocytesCardiomyopathyFriedreich's ataxiaInflammationVascular system

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