Genetic factors related to mitochondrial function and risk of diabetes mellitus
Genetic factors related to mitochondrial function and risk of diabetes mellitus
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DOI：
10.1016/j.diabres.2007.01.052
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发表时间：
2007-09-01
影响因子：
5.1
通讯作者：
Lee, Hong Kyu
中科院分区：
文献类型：
--
作者：
Cho, Young Min;Park, Kyong Soo;Lee, Hong Kyu
线粒体是细胞内的细胞器，负责通过氧化磷酸化(OXPHOS)过程产生ATP，并拥有自己的DNA，其中包含13个OXPHOS亚基的基因，以及2个rRNAs和22个tRNAs的蛋白质合成机制。由于线粒体DNA(MtDNA)的编码能力有限，核基因对线粒体的结构、代谢系统和生物发生都有重要的贡献。目前，越来越多的证据表明线粒体功能障碍在2型糖尿病的发病机制中起着至关重要的作用。在这篇综述中，我们发现外周血细胞线粒体DNA拷贝数与胰岛素抵抗、胰岛素分泌缺陷等2型糖尿病的多种病理生理特征有关。此外，外周血mtDNA拷贝数也是2型糖尿病发生的危险因素。线粒体DNA和调控线粒体功能的核基因的常见多态可能与2型糖尿病有关。阐明调控线粒体功能的遗传因素将有助于理解线粒体功能障碍与2型糖尿病发病机制的关系。(C)2007爱思唯尔爱尔兰有限公司。保留所有权利。
Mitochondria are the intracellular organelles responsible for the generation of ATP by the process of oxidative phosphorylation (OXPHOS) and have their own DNA containing genes for 13 subunits of OXPHOS and 2 rRNAs and 22 tRNAs for their protein synthesis machinery. Since mitochondrial DNA (mtDNA) has limited coding capacity, nuclear genes make a major contribution to mitochondrial architecture, metabolic systems and biogenesis. Nowadays, there is a growing body of evidence that the mitochondrial dysfunction plays a crucial role in the pathogenesis of type 2 diabetes. In this review, we showed that mtDNA copy number in peripheral blood cells is associated with various pathophysiological characteristics of type 2 diabetes such as insulin resistance and insulin secretory defect. In addition, peripheral blood mtDNA copy number is a risk factor for the development of type 2 diabetes. Common polymorphisms in mtDNA and nuclear genes regulating mitochondrial function might be associated with type 2 diabetes. Elucidation of genetic factors regulating mitochondrial function would be of help to understand how mitochondrial dysfunction is linked to the pathogenesis of type 2 diabetes. (c) 2007 Elsevier Ireland Ltd. All rights reserved.