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Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia
Author(s) -
Delatycki Martin B.,
Camakaris James,
Brooks Hilary,
EvansWhipp Tracy,
Thorburn David R.,
Williamson Robert,
Forrest Susan M.
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199905)45:5<673::aid-ana20>3.0.co;2-q
Subject(s) - frataxin , ataxia , mitochondrion , biology , iron binding proteins , gene , genetics , microbiology and biotechnology , neuroscience
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