摘要
DNA聚合酶γ(polγ)是已知DNA聚合酶中唯一位于线粒体并参与线粒体DNA复制与修复的酶。POLG的突变可导致其编码的polγ功能异常,从而使线粒体DNA的复制发生障碍,影响线粒体的功能,引起线粒体相关的疾病。目前已发现POLG1基因的致病性突变多达130种,可导致Alpers综合征、渐行性眼外肌麻痹等线粒体疾病。现从DNA聚合酶γ的分子结构及其在线粒体DNA复制与修复中所起到的作用,阐述POLG突变与线粒体疾病的关系,并简要介绍几个常见的突变位点。
DNA polymerase γ（polγ）,the only known DNA polymerase in human mitochondria,is essential for mitochondrial DNA（mtDNA）replication and repair.Mutations in POLG may lead to the dysfunctions of polγ,resulting in mitochondrial dysfunctions and disease.About 130 mutations in the human POLG1 have been identified in patients with mitochondrial diseases such as Alpers syndrome,progressive external ophthalmoplegia and so on.Here is to demonstrate the relationship between the mutations of POLG and mitochondrial disease from the structure and functions of DNA polymerase γ,as well as a glimpse on some common mutations of POLG.
出处
《医学综述》
2012年第3期344-347,共4页
Medical Recapitulate
