Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10795991 | Biochimica et Biophysica Acta (BBA) - Bioenergetics | 2009 | 8 Pages |
Abstract
DNA polymerase γ 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 γ (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 γ accessory subunit. We review the results of these studies, which provide clues to the mechanisms leading to the disease state.
Keywords
8-oxo-dGnucleoside reverse-transcriptase inhibitorMitochondrial DNA replicationNRTINMDPTCNAS8-oxo-7,8-dihydro-2′-deoxyguanosineMitochondrial DNADNA polymerase γDNA polymerase gammaROSAutosomal DominantMitochondrial diseaseOxidative stressmtDNAMitochondriawild-typepol γPEOProgressive external ophthalmoplegiapremature termination codonReactive oxygen species
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Authors
Sherine S.L. Chan, William C. Copeland,