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

被引：117

作者：

Chan, Sherine S. L. ^{[1
]}

Copeland, William C. ^{[1
]}

机构：

[1] Natl Inst Environm Hlth Sci, Mol Genet Lab, NIH, Res Triangle Pk, NC 27709 USA

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS | 2009年 / 1787卷 / 05期

关键词：

Mitochondria; Mitochondrial disease; DNA polymerase gamma; Mitochondrial DNA replication; Oxidative stress; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CAG REPEAT; SACCHAROMYCES-CEREVISIAE; ALPERS-SYNDROME; W748S MUTATION; GENE POLG; POLYMORPHISM; DEFECTS; TOXICITY; PATIENT;

D O I：

10.1016/j.bbabio.2008.10.007

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. Published by Elsevier B.V.

引用

页码：312 / 319

页数：8

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