DNA聚合酶γ与线粒体疾病：了解POLG突变的后果
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
作者信息
Chan Sherine S L, Copeland William C
机构信息
National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA.
出版信息
Biochim Biophys Acta. 2009 May;1787(5):312-9. doi: 10.1016/j.bbabio.2008.10.007. Epub 2008 Oct 29.
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.
摘要
DNA聚合酶γ是人类线粒体中唯一已知的DNA聚合酶，对线粒体DNA的复制和修复至关重要。众所周知，线粒体DNA复制缺陷会导致线粒体功能障碍和疾病。已经在编码DNA聚合酶γ催化亚基（POLG）的基因中鉴定出160多种编码变异。我们团队和其他团队已经对一些更常见且有趣的突变以及DNA聚合酶γ辅助亚基中的疾病突变进行了特征描述。我们回顾了这些研究结果，它们为导致疾病状态的机制提供了线索。
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