Mitochondrial DNA Mutations and Their Effects on Complex I Biogenesis: Implications for Metabolic Disease

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    NADH-ubiquinone oxidoreductase (complex I) is a large, multimeric enzyme complex involved in the generation of ATP by oxidative phosphorylation (OXPHOS). It is comprised of 45 different polypeptide subunits, seven of which are encoded by the mitochondrial genome. For complex I to function efficiently it must be assembled correctly from these subunits in a coordinated manner. Disruption of this assembly process can result in complex I deficiency and a wide range of different mitochondrial disorders, including ophthalmological syndromes and fatal childhood encephalomyopathies. This chapter will describe our current understanding of complex I structure, function, and assembly. In particular, how mutations in mtDNA-encoded subunits disrupt complex I assembly and contribute to human disease pathogenesis will be discussed.

    Original languageEnglish
    Title of host publicationMitochondrial DNA, Mitochondria, Disease and Stem Cells
    EditorsJustin Charles St John
    Place of PublicationUnited States
    PublisherHumana Press
    Pages25 - 47
    Number of pages23
    ISBN (Electronic)9781627031011
    ISBN (Print)9781627031004
    Publication statusPublished - 1 Jan 2013

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