Recent advances in the molecular pathogenesis of Friedreich ataxia

Hum Mol Genet. 2000 Apr 12;9(6):887-92. doi: 10.1093/hmg/9.6.887.

Abstract

Friedreich ataxia, the most frequent cause of recessive ataxia, is due in most cases to a homozygous intronic expansion resulting in the loss of function of frataxin. Frataxin is a mitochondrial protein conserved through evolution. Yeast knock-out models and histological data from patient heart autopsies have shown that frataxin defect causes mitochondrial iron accumulation. Biochemical data from patient heart biopsies or autopsies have revealed a specific deficiency in the activities of aconitases and of mitochondrial iron-sulfur proteins. These results suggest that frataxin may play a role either in mitochondrial iron transport or in iron-sulfur cluster assembly or transport. Iron abnormalities suggest a pathogenic mechanism involving free radical production and oxidative stress, a process that might be sensitive to antioxidant therapies.

Publication types

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

MeSH terms

  • Frataxin
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / therapy
  • Humans
  • Iron / metabolism
  • Iron-Binding Proteins*
  • Iron-Sulfur Proteins / deficiency
  • Mitochondria / metabolism
  • Mutation
  • Phosphotransferases (Alcohol Group Acceptor) / genetics

Substances

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