Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
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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C/EBPα plays a role in the iron-mediated regulation of hepcidin mRNA.
“Studies in the liver demonstrated that C/EBPα plays a role in the iron-mediated regulation of hepcidin mRNA (58).”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [58]
Levels of C/EBPα transcription factor in murine liver are doubled in response to iron loading.
“levels of C/EBPα transcription factor in murine liver are doubled in response to iron loading,”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [58]
Mice deficient in C/EBPα exhibit lower levels of hepcidin mRNA.
“mice deficient in C/EBPα exhibited lower levels of hepcidin mRNA,”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [58]
C/EBPα modulates hepcidin transcription.
“suggesting that C/EBPα modulates hepcidin transcription (58).”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [58]
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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
- 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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