Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia
MB Delatycki, J Camakaris, H Brooks… - Annals of Neurology …, 1999 - Wiley Online Library
MB Delatycki, J Camakaris, H Brooks, T Evans‐Whipp, DR Thorburn, R Williamson…
Annals of Neurology: Official Journal of the American Neurological …, 1999•Wiley Online LibraryFriedreich 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 …
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 …
Abstract
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
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