肿瘤线粒体DNA突变的特征及其研究进展  

Characteristics and research progress of mitochondrial DNA mutations in tumors

作　　者：孙天雷 张严方 谷习文 邢金良 SUN Tianlei;ZHANG Yanfang;GU Xiwen;XING Jinliang(College of Medical Technology,Shaanxi University of Chinese Medicine,Shaanxi Xianyang 712000,China;College of LifeSciences,Northwest University,Shaanxi Xi'an 710000,China;College of Basic Medicine,Air Force Medical University,Shaanxi Xi'an710032,China)

机构地区：[1]陕西中医药大学医学技术学院,陕西咸阳712000 [2]西北大学生命科学学院,陕西西安710000 [3]空军军医大学基础医学院,陕西西安710032

出　　处：《现代肿瘤医学》2023年第16期3093-3098,共6页Journal of Modern Oncology

基　　金：国家自然科学基金资助项目(编号:81830070)。

摘　　要：线粒体DNA(mtDNA)突变可改变线粒体在氧化代谢中的功能,是肿瘤中最常见的遗传事件之一。随着新一代测序技术的迅速发展,肿瘤mtDNA测序数据急剧增加,泛癌种的mtDNA突变特征得以揭示。肿瘤异质性在人类肿瘤中已被广泛报道,由于线粒体基因组的不稳定性,mtDNA突变对肿瘤异质性有重要作用。此外,mtDNA突变的进化选择对肿瘤异质性也有影响,阐明复杂的进化选择模式对肿瘤研究意义重大。近年来,直接针对mtDNA的基因工程技术取得进展,为精准表征mtDNA突变与肿瘤细胞表型之间的关系提供了研究手段。深入理解肿瘤中mtDNA突变的特征,可为肿瘤的基础研究及临床诊疗提供新的思路。Mitochondrial DNA(mtDNA)mutations alter the function of mitochondria in oxidative metabolism and are one of the most common genetic events in tumors.With the rapid development of next generation sequencing technology,mtDNA sequencing data of tumors have increased dramatically,and mtDNA mutation characteristics of pancarcinomas have been revealed.Tumor heterogeneity has been widely reported in human tumors,and mtDNA mutations play an important role in tumor heterogeneity due to mitochondrial genome instability.In addition,evolutionary selection of mtDNA mutations also has an effect on tumor heterogeneity,and it is of great significance to elucidate complex evolutionary selection patterns for tumor research.In recent years,the genetic engineering technology directly targeting mtDNA has made progress,providing a means to accurately characterize the relationship between mtDNA mutations and tumor cell phenotypes.A thorough understanding of the characteristics of mtDNA mutations in tumors can provide new ideas for basic research and clinical diagnosis and treatment of tumors.

关 键 词：线粒体DNA 突变 肿瘤异质性 进化 

分 类 号：R730[医药卫生—肿瘤]