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线粒体是细胞内的重要细胞器,普遍存在于真核细胞中。它具有独特的超微结构,通过氧化磷酸化合成ATP供给细胞各种生命活动的需要。1981年Anderson[1]等发表了人类线粒体DNA(mtDNA)的全序列。1988年,Holt和Wal-lace分别在线粒体脑病和Leber’s遗传性视神经病(LHON)患者的细胞中发现了mtDNA突变,从而开辟了研究mTDNA突变与人类疾病的新领域。目前已发现mtDNA的50多种点突变和100多种基因重排与人类疾病相关[2]。将mtDNA分子遗传学研究与临床研究相结合,使人类对线粒体疾病的认识日益深入。近年来,线粒体基因突变与糖尿病(DM)发生发展的关系已受到广泛重视。由于氧化磷酸化在胰岛β细胞分泌胰岛素过程中的重要作用,使其成为DM的又一重要的候选基因。
Mitochondria are important intracellular organelles that are ubiquitous in eukaryotic cells. It has a unique ultrastructure that is required for the various life activities of ATP supplied to cells by oxidative phosphorylation. In 1981, Anderson [1] published the complete sequence of human mitochondrial DNA (mtDNA). In 1988, Holt and Wal-lace discovered mtDNA mutations in the cells of patients with mitochondrial encephalopathy and Leber’s hereditary optic neuropathy (LHON), respectively, opening up new areas for the study of mTDNA mutations and human diseases. It has been found that more than 50 kinds of mtDNA point mutations and 100 kinds of gene rearrangements associated with human disease [2]. The combination of mtDNA molecular genetics and clinical research has made human beings increasingly aware of mitochondrial diseases. In recent years, the relationship between mitochondrial gene mutation and the development of diabetes mellitus (DM) has received extensive attention. Due to the important role of oxidative phosphorylation in insulin secretion by pancreatic beta cells, it has become another important candidate gene for DM.