【摘要】 DNA聚合酶是细胞复制DNA的重要作用酶。DNA聚合酶γ(polγ)存在于人类线粒体中,它是线粒体DNA复制和修复所必须。DNA聚合酶γ基因(POLG)发生突变后会导致其编码的polγ功能发生改变,使线粒体DNA(mtD-NA)复制及线粒体氧化磷酸化等功能障碍,引起线粒体相关疾病。对这些突变位点及其与疾病关系的研究为线粒体疾病的发病机制及治疗等提供了线索。本文对一些POLG常见位点突变相关研究进行了综述。更多还原

【Abstract】 DNA polymerase is important for DNA replication. DNA polymerase gamma(pol γ) is located in mitochondria and is essential for mitochondrial DNA (mtDNA) replication and repair. Mutations in DNA pol γ gene (POLG) may lead to pol γ disfunction and result in disease. Ascertaining the relationship between the mutations in POLG and disease helps to increase understanding of the pathogenesis of human mitochondrial diseases. This article reviews several studies on human mitochondrial diseases associated with POLGs.更多还原