Cardiomyopathy of Friedreich's ataxia: Use of mouse models to understand human disease and guide therapeutic development

R. Mark Payne, P. Melanie Pride, Clifford M. Babbey

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

Friedreich's ataxia is a multisystem disorder of mitochondrial function affecting primarily the heart and brain. Patients experience a severe cardiomyopathy that can progress to heart failure and death. Although the gene defect is known, the precise function of the deficient mitochondrial protein, frataxin, is not known and limits therapeutic development. Animal models have been valuable for understanding the basic events of this disease. A significant need exists to focus greater attention on the heart disease in Friedreich's ataxia, to understand its long-term outcome, and to develop new therapeutic strategies using existing medications and approaches. This review discusses some key features of the cardiomyopathy in Friedreich's ataxia and potential therapeutic developments.

Original languageEnglish (US)
Pages (from-to)366-378
Number of pages13
JournalPediatric Cardiology
Volume32
Issue number3
DOIs
StatePublished - Mar 2011

Keywords

  • Cardiomyopathy
  • Friedreich's ataxia
  • Mitochondria
  • Therapy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Pediatrics, Perinatology, and Child Health

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