Peer-reviewed veterinary case report
NDUFS4: creation of a mouse model mimicking a Complex I disorder.
- Journal:
- Mitochondrion
- Year:
- 2009
- Authors:
- Ingraham, Christopher A et al.
- Affiliation:
- Department of Biomedical Genetics · United States
Abstract
The Complex I NADH dehydrogenase-ubiquinone-FeS 4 (NDUFS4) subunit gene is involved in proper Complex I function such that the loss of NDUFS4 decreases Complex I activity resulting in mitochondrial disease. Therefore, a mouse model harboring a point mutation in the NDUFS4 gene was created. An embryonic lethal phenotype was observed in homozygous (NDUFS4(-/-)) mutant fetuses. Mitochondrial function was impaired in heterozygous animals based on oxygen consumption, and Complex I activity in NDUFS4 mouse mitochondria. Decreased Complex I activity with unaltered Complex II activity, along with an accumulation of lactate, were consistent with Complex I disorders in this mouse model.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/19460290/