Friedreich Ataxia: current status and future prospects

Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is significantly reduced. Frataxin is a mitochondrial protein. Its deficiency leads to mitochondrial iron overload, defective energy supply and generation of reactive oxygen species. This review gives an overview over clinical and genetic aspects of FA and discusses current concepts of frataxin biogenesis and function as well as new therapeutic strategies.

• Publication year

  2017

• Venue

  Cerebellum & Ataxias

• Publication date

  2017-04-07

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1186/s40673-017-0062-xPMID 28405347PMCID 5383992
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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