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Biochim Biophys Acta. 2009 May;1787(5):312-9. doi: 10.1016/j.bbabio.2008.10.007. Epub 2008 Oct 29.

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

Author information

1
National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA. sherine.s.l.chan@gmail.com

Abstract

DNA polymerase gamma is the only known DNA polymerase in human mitochondria and is essential for mitochondrial DNA replication and repair. It is well established that defects in mtDNA replication lead to mitochondrial dysfunction and disease. Over 160 coding variations in the gene encoding the catalytic subunit of DNA polymerase gamma (POLG) have been identified. Our group and others have characterized a number of the more common and interesting mutations, as well as those disease mutations in the DNA polymerase gamma accessory subunit. We review the results of these studies, which provide clues to the mechanisms leading to the disease state.

PMID:
19010300
PMCID:
PMC2742478
DOI:
10.1016/j.bbabio.2008.10.007
[Indexed for MEDLINE]
Free PMC Article

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