Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

Nat Genet. 1997 Aug;16(4):345-51. doi: 10.1038/ng0897-345.


Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse frataxin expression correlates well with the main site of neurodegeneration, but the expression pattern is broader than expected from the pathology of the disease. Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate, including liver, kidney, brown fat and heart. We found that mouse and yeast frataxin homologues contain a potential mitochondrial targeting sequence in their N-terminal domains and that disruption of the yeast gene results in mitochondrial dysfunction. Finally, tagging experiments demonstrate that human frataxin co-localizes with a mitochondrial protein. Friedreich's ataxia is therefore a mitochondrial disease caused by a mutation in the nuclear genome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Animals, Newborn
  • Embryo, Mammalian
  • Gene Deletion
  • Gene Expression
  • HeLa Cells
  • Humans
  • Iron-Binding Proteins*
  • Mice
  • Mitochondria / physiology*
  • Molecular Sequence Data
  • Phenotype
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / physiology*
  • RNA, Messenger
  • Saccharomyces cerevisiae


  • Iron-Binding Proteins
  • RNA, Messenger
  • frataxin
  • Phosphotransferases (Alcohol Group Acceptor)

Associated data

  • GENBANK/U95736