Friedreich's ataxia protein: Phylogenetic evidence for mitochondrial dysfunction

Toby J. Gibson, Eugene V. Koonin, Giovanna Musco, Annalisa Pastore, Peer Bork

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)465-468
Number of pages4
JournalTrends in Neurosciences
Issue number11
Publication statusPublished - Nov 1996

ASJC Scopus subject areas

  • Neuroscience(all)


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