线粒体基因组在消化系统疾病中的作用

摘要

线粒体是人体细胞内重要的细胞器，通过合成ATP为各种生命活动提供能量。它还是人细胞核以外唯一含有遗传物质DNA的细胞器。人的线粒体基因组较小，只编码37个产物，包括2种核糖体RNA、22种转移RNA及13种多肽(主要是构成4个呼吸链复合物的亚基)，其中基因mt-ATP6和mt-ATP8分别编码ATP酶的6亚基和8亚基，而这两个亚基是ATP酶的重要组成结构。研究发现线粒体基因组的DNA异常会导致线粒体基因病，还可能参与肿瘤、衰老等疾病的发病机制。近年来研究发现其还可能是功能性胃肠疾病、炎性肠病等发病机制的重要环节。本文就线粒体基因组和常见消化系统疾病的关系，尤其与消化道肿瘤及癌前病变、功能性胃肠疾病等的关系作一概述。%The mitochondrion is an organelle where ATP production occurs. Meanwhile, it is the only organelle in which extrachromosomal DNA can be found in human. The mitochondrial genome in human is a small one, which con-tains 2 rRNA genes and 22 tRNA genes as well as 13 genes that encodes proteins that are the parts of the electrontrans-port chain. The subunit 6 and 8 of the ATPase are encoded by mt-ATP6 and mt-ATP8 from the mitochondrial genome. The abnormality of the mitochondrial DNA is found to be responsible for mitochondrial diseases. It is also reported that mutations in genes of the mitochondrial DNA are associated with aging, tumorigenisis, functional gastrointestinal disea-ses, inflammatory bowel disease and so on. Hereby, the role of mitochondrial DNA in the pathogenesis of digestive disea-ses, with special focus on digestive tumors, premalignant lesions and functional gastrointestinal diseases was reviewed in this article.