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Identification of Mutations in mtDNA from Patients Suffering Mitochondrial Diseases

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Mitochondrial DNA

Part of the book series: Methods in Molecular Biology™ ((MIMB,volume 197))

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Abstract

The human mitochondrial genome (see Fig. 1) is a 16,569-bp (base pair) circle of double-stranded DNA (1). It contains genes encoding 2 ribosomal RNAs, 22 transfer RNAs, and 13 structural genes, all of which are subunits of the respiratory chain complexes. Of the 13 structural genes, 7 encode subunits of complex I (NADH-CoQ oxidoreductase), 1 encodes the cytochrome-b subunit of complex III (CoQ-cytochrome-c oxidoreductase), 3 encode subunits of complex IV (cytochrome-c oxidase, or COX), and 2 encode subunits of complex V (ATP synthase). Each of these complexes also contains subunits encoded by nuclear genes, which are imported from the cytoplasm and assembled, together with the mtDNA-encoded subunits, into the respective holoenzymes, which are embedded in the mitochondrial inner membrane. Complex II (succinate dehydrogenase-CoQ oxidoreductase), of which succinate dehydrogenase (SDH) is a component, is encoded entirely by nuclear genes.

The human mitochondrial genome. The structural genes for the mtDNA-encoded 12S and 16S ribosomal RNAs, the subunits of NADH-coenzyme Q oxidoreductase (ND), cytochrome-c oxidase (COX), cytochrome-b (Cyt b), and ATP synthase (A), and 22 tRNAs, are shown, as are the origins of heavy- (OH) and light (OL) -strand replication.

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Authors and Affiliations

  1. Departments of Neurology and of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY

    Eric A. Schon

  2. Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY

    Ali Naini & Sara Shanske

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  1. Eric A. Schon
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  2. Ali Naini
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  3. Sara Shanske
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Editors and Affiliations

  1. Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC

    William C. Copeland

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© 2002 Humana Press Inc.

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Schon, E.A., Naini, A., Shanske, S. (2002). Identification of Mutations in mtDNA from Patients Suffering Mitochondrial Diseases. In: Copeland, W.C. (eds) Mitochondrial DNA. Methods in Molecular Biology™, vol 197. Humana Press. https://doi.org/10.1385/1-59259-284-8:055

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  • DOI: https://doi.org/10.1385/1-59259-284-8:055

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-972-8

  • Online ISBN: 978-1-59259-284-5

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