Deciphering the cause of Friedreich ataxia

Curr Opin Neurobiol. 1997 Oct;7(5):689-94. doi: 10.1016/s0959-4388(97)80090-6.

Abstract

Friedreich ataxia (FA), the most frequent cause of recessive ataxia, is attributable, in most cases, to a large expansion of an intronic GAA repeat, resulting in decreased expression of the target frataxin gene. This gene encodes a novel mitochondrial protein that has homologues of unknown function in yeast and even in gram-negative bacteria. Yeast deficient in the frataxin homologue accumulate iron in their mitochondria and show increased sensitivity to oxidative stress. This finding suggests that FA patients suffer from a mitochondrial dysfunction that causes free-radical toxicity, reminiscent of the clinically similar ataxia caused by inherited isolated vitamin E deficiency.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Frataxin
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / metabolism
  • Friedreich Ataxia / physiopathology
  • Humans
  • Iron-Binding Proteins*
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism
  • Phosphotransferases (Alcohol Group Acceptor) / physiology
  • Vitamin E Deficiency / physiopathology

Substances

  • Iron-Binding Proteins
  • Phosphotransferases (Alcohol Group Acceptor)