Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia

Friedreich ataxia (FRDA) is due to mutations in the FRDA gene (FRDA). When the gene homologous to FRDA is knocked out in yeast, there is accumulation of iron in mitochondria and reduced respiratory function. So far, there is only indirect evidence to support the hypothesis that FRDA is due to accumu...

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Bibliographic Details
Published in:Annals of neurology 1999-05, Vol.45 (5), p.673-675
Main Authors: Delatycki, Martin B., Camakaris, James, Brooks, Hilary, Evans-Whipp, Tracy, Thorburn, David R., Williamson, Robert, Forrest, Susan M.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Fibroblasts - chemistry
Friedreich Ataxia - blood
Humans
Iron - blood
Medical sciences
Mitochondria - metabolism
Neurology
Tropical medicine
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Summary:Friedreich ataxia (FRDA) is due to mutations in the FRDA gene (FRDA). When the gene homologous to FRDA is knocked out in yeast, there is accumulation of iron in mitochondria and reduced respiratory function. So far, there is only indirect evidence to support the hypothesis that FRDA is due to accumulation of mitochondrial iron leading to increased production of free radicals. We show here that mitochondrial iron is significantly higher in fibroblasts from patients with FRDA than in control fibroblasts. This is the first direct evidence that the findings in yeast are reproducible in cells from patients with FRDA. Ann Neurol 1999;45:673–675
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(199905)45:5<673::AID-ANA20>3.0.CO;2-Q