NDUFS4: creation of a mouse model mimicking a Complex I disorder

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 embryo...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Mitochondrion 2009-06, Vol.9 (3), p.204-210
Hauptverfasser:	Ingraham, Christopher A, Burwell, Lindsay S, Skalska, Jolanta, Brookes, Paul S, Howell, Robert L, Sheu, Shey-Shing, Pinkert, Carl A
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Disease Models, Animal Electron Transport Complex I - deficiency Electron Transport Complex I - genetics Female Heterozygote Homozygote Mice Mice, Inbred C57BL Mice, Inbred ICR Mitochondrial Diseases - genetics Mitochondrial Diseases - pathology Point Mutation
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	1567-7249 1872-8278
DOI:	10.1016/j.mito.2009.02.001