Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy

Duncan E. Crombie, Martin F. Pera, Martin B. Delatycki, Alice Pébay

Research output: Contribution to journalReview ArticleOtherpeer-review

3 Citations (Scopus)

Abstract

Friedreich ataxia (FRDA) is the most common of the inherited ataxias. It is an autosomal recessive disease characterised by degeneration of peripheral sensory neurons, regions of the central nervous system and cardiomyopathy. FRDA is usually due to homozygosity for trinucleotide GAA repeat expansions found within first intron of the FRATAXIN (FXN) gene, which results in reduced levels of the mitochondrial protein FXN. Reduced FXN protein results in mitochondrial dysfunction and iron accumulation leading to increased oxidative stress and cell death in the nervous system and heart. Yet the precise functions of FXN and the underlying mechanisms leading to disease pathology remain elusive. This is particularly true of the cardiac aspect of FRDA, which remains largely uncharacterized at the cellular level. Here, we summarise current knowledge on experimental models in which to study FRDA cardiomyopathy, with a particular focus on the use of human pluripotent stem cells as a disease model.

Original languageEnglish
Pages (from-to)37-43
Number of pages7
JournalInternational Journal of Cardiology
Volume212
DOIs
Publication statusPublished - 1 Jun 2016

Keywords

  • Cardiomyopathy
  • FRATAXIN
  • Friedreich ataxia
  • Stem cells

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