9. Friedreich's Ataxia and Diseases Associated with Expansion of Non-Coding Triplets

  1. Robert Crichton and
  2. Roberta Ward

Published Online: 6 SEP 2013

DOI: 10.1002/9781118553480.ch09

Metal-based Neurodegeneration: From Molecular Mechanisms to Therapeutic Strategies

Metal-based Neurodegeneration: From Molecular Mechanisms to Therapeutic Strategies

How to Cite

Crichton, R. and Ward, R. (eds) (2013) Friedreich's Ataxia and Diseases Associated with Expansion of Non-Coding Triplets, in Metal-based Neurodegeneration: From Molecular Mechanisms to Therapeutic Strategies, John Wiley and Sons Ltd, Chichester, United Kingdom. doi: 10.1002/9781118553480.ch09

Editor Information

  1. Unit of Biochemistry, Université Catholique de Louvain, Belgium

Publication History

  1. Published Online: 6 SEP 2013
  2. Published Print: 25 OCT 2013

ISBN Information

Print ISBN: 9781119977148

Online ISBN: 9781118553480

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Keywords:

  • frataxin;
  • Friedreich's ataxia (FRDA);
  • iron metabolism;
  • neurological diseases;
  • non-coding triplets

Summary

Friedreich's ataxia (FRDA) is the most common hereditary ataxia and is the most prevalent cerebellar ataxia among children and adults in Europe. FRDA is yet another of the 19 neurological diseases in man which are known to be caused by the anomalous expansion of unstable nucleotide repeats. The accumulation of iron in mitochondria from yeast with the deleted frataxin gene and subsequently in tissues of patients with FRDA clearly indicated that frataxin was involved in mitochondrial iron metabolism. The link between lack of frataxin and deficit of iron—sulfur clusters (ISCs) was quickly discovered, setting the scene for the subsequent developments which is described here. Altogether ten neurological diseases are associated with the anomalous expansion of unstable tri-, tetra- or pentanucleotide repeats, either in untranslated regions or in introns. All of the proteins encoded by these genes are either absent, or, as in the case of FRDA, expressed with low efficiency.