These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy.
    Author: Lunardi J, Darrouzet E, Dupuis A, Issartel JP.
    Journal: Biochim Biophys Acta; 1998 Aug 14; 1407(2):114-24. PubMed ID: 9685604.
    Abstract:
    Mutation at position 11778 in the nd4 gene of the human mitochondrial complex I is associated with Leber's hereditary optic neuropathy. Type I NADH:ubiquinone oxidoreductase of Rhodobacter capsulatus displays similar properties to complex I of the mitochondrial respiratory chain. The NUOM subunit of the bacterial enzyme is homologous to the ND4 subunit. Disruption of the nuoM gene led to a bacterial mutant exhibiting a defect in complex I activity and assembly. A nuoM-1103 point mutant reproducing the nd4-11778 mutation has been introduced in the R. capsulatus genome. This mutant showed a reduced ability to grow in a medium containing malate instead of lactate which indicated a clear impairment in oxidative phosphorylation capacity. NADH supported respiration of porous bacterial cells was significantly decreased in the nuoM-1103 mutant while no significant reduction could be observed in isolated bacterial membranes. As it has been observed in the case of the nd4-11778 mitochondrial mutation, proton-pump activity of the bacterial enzyme was not affected by the nuoM-1103 mutation. All these data which reproduce most of the biochemical features observed in patient mitochondria harboring the nd4-11778 mutation show that the R. capsulatus complex I might be used as a useful model to investigate mutations of the mitochondrial DNA which are associated with complex I deficiencies in human pathologies.
    [Abstract] [Full Text] [Related] [New Search]