Journal Article

Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia

Karine Chantrel-Groussard, Vanna Geromel, Hélène Puccio, Michel Koenig, Arnold Munnich, Agnès Rötig and Pierre Rustin

in Human Molecular Genetics

Volume 10, issue 19, pages 2061-2067
Published in print September 2001 | ISSN: 0964-6906
Published online September 2001 | e-ISSN: 1460-2083 | DOI:
Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia

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Friedreich’s ataxia (FRDA) results from a generalized deficiency of mitochondrial iron–sulfur protein activity ascribed to mitochondrial iron overload. However, iron overload appears to be a late event in the disease. Here we show that neither superoxide dismutases nor the import iron machinery was induced by an endogenous oxidative stress in FRDA patients’ fibroblasts in contrast to control cells. Superoxide dismutase activity was not induced in the heart of conditional frataxin-KO mice either. This suggests that continuous oxidative damage to iron–ulfur clusters, resulting from hampered superoxide dismutase signaling, is causative of the mitochondrial deficiency and long term mitochondrial iron overload occurring in FRDA.

Journal Article.  4872 words.  Illustrated.

Subjects: Genetics and Genomics

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