Cardiomyopathy in Friedreich ataxia: Clinical findings and research

R. Payne, Gregory R. Wagner

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often the result of a triplet expansion in the nuclear FXN gene. The gene cannot be transcribed to generate the messenger ribonucleic acid for frataxin. Frataxin is an iron-binding protein targeted to the mitochondrial matrix. In its absence, multiple iron-sulfur-dependent proteins in mitochondria and the cytosol lack proper assembly, destroying mitochondrial and nuclear function. Mitochondrial oxidant stress may also participate in ongoing cellular injury. Although progressive and debilitative ataxia is the most prominent clinical finding, hypertrophic cardiomyopathy with heart failure is the most common cause of early death in this disease. There is no cure. In this review the authors cover recent basic and clinical findings regarding the heart in Friedreich ataxia, offer recommendations for clinical management of the cardiomyopathy in this disease, and point out new research directions to advance the field.

Original languageEnglish
Pages (from-to)1179-1186
Number of pages8
JournalJournal of Child Neurology
Volume27
Issue number9
DOIs
StatePublished - Sep 2012

Fingerprint

Friedreich Ataxia
Cardiomyopathies
Ataxia
Iron-Binding Proteins
Research
Iron-Sulfur Proteins
Hypertrophic Cardiomyopathy
Oxidants
Cytosol
Genes
Cause of Death
Mitochondria
Heart Failure
RNA
Wounds and Injuries
frataxin
Proteins

Keywords

  • cardiomyopathy
  • frataxin
  • Friedreich ataxia
  • heart
  • mitochondria

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Cardiomyopathy in Friedreich ataxia : Clinical findings and research. / Payne, R.; Wagner, Gregory R.

In: Journal of Child Neurology, Vol. 27, No. 9, 09.2012, p. 1179-1186.

Research output: Contribution to journalArticle

Payne, R. ; Wagner, Gregory R. / Cardiomyopathy in Friedreich ataxia : Clinical findings and research. In: Journal of Child Neurology. 2012 ; Vol. 27, No. 9. pp. 1179-1186.
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