Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction

Trends Neurosci. 1996 Nov;19(11):465-8. doi: 10.1016/S0166-2236(96)20054-2.

Abstract

Friedreich's ataxia is the most common inherited spinocerebellar ataxia. A decade of linkage and physical mapping studies have culminated in the identification of the Friedreich's ataxia gene. The presence of homologues in purple bacterial genomes, but not in other bacteria, allows us to infer a mitochondrial location for frataxin (Friedreich's ataxia protein) on the basis of bacterial phylogeny. Frataxin possesses a non-globular N-terminus domain providing a candidate mitochondrial targeting peptide. Clues to the function of frataxin are provided by the mitochondrial location, a clinically similar ataxia with vitamin E deficiency, and certain neuropathies with mitochondrial DNA instability caused by mutations in nuclear genes.

MeSH terms

  • Amino Acid Sequence
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / metabolism*
  • Humans
  • Mitochondria / metabolism*
  • Molecular Sequence Data
  • Proteins / metabolism*

Substances

  • Proteins