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The Mitochondrial DNA Polymerase in Health and Disease

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Book cover Genome Stability and Human Diseases

Part of the book series: Subcellular Biochemistry ((SCBI,volume 50))

Abstract

Since mutations in mitochondrial DNA (mtDNA) have been shown to be a cause of many mitochondrial diseases as well as aging, it is important to understand the origin of these mutations and how replication proteins modulate this process. DNA polymerase γ (pol γ) is the polymerase that is responsible for replication and repair of mtDNA. Pol γ has three main roles in mtDNA maintenance and mutagenesis. As the only known DNA polymerase in mitochondria, pol γ is required for all replication and repair functions and is the main source of errors produced in human mtDNA. Pol γ is also sensitive to a host of antiviral nucleoside analogs used to treat HIV-1 infections, which can cause an induced mitochondrial toxicity. Finally, the gene for pol γ, POLG, is a genetic locus for several mitochondrial disease with over 150 genetic mutations currently identified.

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  1. Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Durham, NC, 27709, USA

    William C. Copeland

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Correspondence to William C. Copeland .

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  1. Galway, Ireland

    Heinz-Peter Nasheuer

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Copeland, W.C. (2010). The Mitochondrial DNA Polymerase in Health and Disease. In: Nasheuer, HP. (eds) Genome Stability and Human Diseases. Subcellular Biochemistry, vol 50. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3471-7_11

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