Friedreich Ataxia


Friedreich ataxia is the most common cause of inherited ataxia in Caucasian populations. It affects the spinal cord and the heart, is of autosomal recessive inheritance and is due to the partial deficiency of a mitochondrial protein, frataxin, thought to be involved in the biogenesis of iron–sulfur clusters. The major mutation is a trinucleotide repeat expansion in intron 1 of the frataxin gene, which causes reduced synthesis of the corresponding transcript.

Keywords: Friedreich ataxia; spinal cord; triplet expansion; mitochondria; iron–sulfur clusters


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Mühlenhoff U, Richhardt N, Ristow M, Kispal G and Lill R (2002) The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Human Molecular Genetics 11: 2025–2036.

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Further Reading

Chen OS, Hemenway S, Kaplan J (2002) Inhibition of Fe–S cluster biosynthesis decreases mitochondrial iron export: evidence that Yfh1p affects Fe–S cluster synthesis. Proceedings of the National Academy of Sciences of the United States of America 99: 12321–12326.

Duby G, Foury F, Ramazzotti A, Herrmann J, Lutz T (2002) A non‐essential function for yeast frataxin in iron‐sulfur cluster assembly. Human Molecular Genetics 11: 2635–2643.

Lill R, Kispal G (2000) Maturation of cellular Fe–S proteins: an essential function of mitochondria. Trends in Biochemical Sciences 25: 352–356.

Mühlenhoff U, Lill R (2000) Biogenesis of iron‐sulfur proteins in eukaryotes: a novel task of mitochondria that is inherited from bacteria. Biochimica et Biophysica Acta 1459: 370–382.

Puccio H, Koenig M (2000) Recent advances in the molecular pathogenesis of Friedreich ataxia. Human Molecular Genetics 9: 887–892.

Puccio H, Koenig M (2002) Friedreich ataxia: a paradigm for mitochondrial diseases. Current Opinion in Genetics and Development 12: 272–277.

Jauslin ML, Wirth T, Meier T, Schoumacher F (2002) A cellular model for Friedreich Ataxia reveals small‐molecule glutathione peroxidase mimetics as novel treatment strategy. Human Molecular Genetics 11: 3055–3063.

Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rotig A, Rustin P (2002) Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart (British Cardiac Society) 87: 346–349.

Web Links

Friedreich ataxia (FRDA); Locus ID: 2395. LocusLink:

Friedreich ataxia (FRDA); MIM number: 606829. OMIM:‐post/Omim/dispmim?606829

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Koenig, Michel(Jan 2006) Friedreich Ataxia. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0006018]