Cited by 377Genetic Neurodegenerative DiseasesMitochondrial Function and PathologyNeurological diseases and metabolism

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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

Cossee, M.·2000·Human Molecular Genetics

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Abstract

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in almost all cases by homozygous intronic expansions resulting in the loss of frataxin, a mitochondrial protein conserved through evolution, and involved in mitochondrial iron homeostasis. Yeast knockout models, and histological and biochemical data from patient heart biopsies or autopsies indicate that the frataxin defect causes a specific iron-sulfur protein deficiency and mitochondrial iron accumulation leading to the pathological changes. Affected human tissues are rarely available to further examine this hypothesis. To study the mechanism of the disease, we generated a mouse model by deletion of exon 4 leading to inactivation of the Frda gene product. We show that homozygous deletions cause embryonic lethality a few days after implantation, demonstrating an important role for frataxin during early development. These results suggest that the milder phenotype in humans is due to residual frataxin expression associated with the expansion mutations. Surprisingly, in the frataxin knockout mouse, no iron accumulation was observed during embryonic resorption, suggesting that cell death could be due to a mechanism independent of iron accumulation.

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Authors: Cossee, M.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2000-05-01
Volume: 9
Issue: 8
Pages: 1219-1226
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/9.8.1219
OpenAlex: W2114190171
Cited by: 377
References: 23
Citations by year: 2026: 5 · 2025: 9 · 2024: 11 · 2023: 9 · 2022: 8 · 2021: 11 · 2020: 10 · 2019: 11 · 2018: 16 · 2017: 16 · 2016: 6 · 2015: 11 · 2014: 20 · 2013: 25 · 2012: 19
FWCI: 8.26
Type: journal article
Language: en
Open access: closed
Locations: Human Molecular Genetics (publishedVersion)
PubMed (publishedVersion)
HighWire Press Open Archive (submittedVersion)
Funders: Muscular Dystrophy Association
Institut National de la Santé et de la Recherche Médicale
Centre National de la Recherche Scientifique
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, embryonic lethality, iron-sulfur proteins, mitochondrial iron homeostasis, iron accumulation, mouse model, cell death mechanisms
MeSH terms: Frataxin, Animals, Decidua, Embryo, Mammalian, Exons, Female, Fetal Death, Friedreich Ataxia, Genotype, Homozygote, Humans, Introns, Iron, Iron-Sulfur Proteins, Necrosis, Phenotype, Pregnancy, Apoptosis, Phosphotransferases (Alcohol Group Acceptor), Mice, Knockout, Iron-Binding Proteins, Mice

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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

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