Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia
Abstract
Friedreich ataxia (FRDA) is a common autosomal recessive degenerative disease (1/50,000 live births) characterized by a progressive-gait and limb ataxia with lack of tendon reflexes in the legs, dysarthria and pyramidal weakness of the inferior limbs. Hypertrophic cardiomyopathy is observed in most FRDA patients. The gene associated with the disease has been mapped to chromosome 9q13 (ref. 3) and encodes a 210-amino-acid protein, frataxin. FRDA is caused primarily by a GAA repeat expansion within the first intron of the frataxin gene, which accounts for 98% of mutant alleles. The function of the protein is unknown, but an increased iron content has been reported in hearts of FRDA patients and in mitochondria of yeast strains carrying a deleted frataxin gene counterpart (YFH1), suggesting that frataxin plays a major role in regulating mitochondrial iron transport. Here, we report a deficient activity of the iron-sulphur (Fe-S) cluster-containing subunits of mitochondrial respiratory complexes I, II and III in the endomyocardial biopsy of two unrelated FRDA patients. Aconitase, an iron-sulphur protein involved in iron homeostasis, was found to be deficient as well. Moreover, disruption of the YFH1 gene resulted in multiple Fe-S-dependent enzyme deficiencies in yeast. The deficiency of Fe-S-dependent enzyme activities in both FRDA patients and yeast should be related to mitochondrial iron accumulation, especially as Fe-S proteins are remarkably sensitive to free radicals. Mutate…
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This induction is regulated at the transcriptional level through an antioxidant-responsive element (ARE) in the 5′-region of ferritin genes.
“This is regulated at the transcriptional level through an antioxidant-responsive element (ARE) (265) (also termed electrophile responsive element) (95) in the 5′-region of ferritin genes (133, 301, 302).”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [265]
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- Authors
- Rötig, A., de Lonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A., & Rustin, P.
- Affiliations
- Hôpital Necker-Enfants Malades (FR)
- UCLouvain (BE)
- Centre National de la Recherche Scientifique (FR)
- Venue
- Nature Genetics
- Published
- 1997-10
- Volume
- 17
- Issue
- 2
- Pages
- 215-217
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2057404038
- Cited by
- 991
- References
- 22
- Citations by year
- 2026: 10 · 2025: 15 · 2024: 19 · 2023: 17 · 2022: 24 · 2021: 34 · 2020: 24 · 2019: 36 · 2018: 31 · 2017: 24 · 2016: 24 · 2015: 25 · 2014: 39 · 2013: 46 · 2012: 45
- FWCI
- 15.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Digital Access to Libraries (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- Friedreich's ataxia, frataxin, aconitase, iron-sulfur proteins, mitochondrial iron accumulation, iron homeostasis, respiratory chain complexes, GAA repeat expansion, Yfh1, mitochondrial disease, hypertrophic cardiomyopathy, endomyocardial biopsy
- MeSH terms
- Frataxin, Aconitate Hydratase, Citric Acid Cycle, Electron Transport, Endocardium, Friedreich Ataxia, Genes, Fungal, Humans, Iron, Iron-Sulfur Proteins, Mitochondria, Models, Biological, Mutation, Myocardium, Saccharomyces cerevisiae, Phosphotransferases (Alcohol Group Acceptor), Oxidative Stress, Iron-Binding Proteins
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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