线粒体置换技术防治线粒体遗传病的研究进展  

Research progress of mitochondrial replacement technology for preventing and treating mitochondrial genetic diseases

作　　者：莫丽芬 林忠 陆振萍 杨金月 黄华 公方强 牛向丽 MO Lifen;LIN Zhong;LU Zhenping;YANG Jinyue;HUANG Hua;GONG Fangqiang;NIU Xiangli(The Reproductive Hospital of Guangxi Zhuang Autonomous Region,Nanning,Guangxi Zhuang Autonomous Region,530002)

机构地区：[1]广西壮族自治区生殖医院,南宁530029

出　　处：《中国计划生育学杂志》2023年第8期2000-2006,共7页Chinese Journal of Family Planning

基　　金：广西壮族自治区生殖医院自筹项目(S8YY2021265)。

摘　　要：线粒体遗传病是线粒体DNA(mtDNA)突变引起的家族遗传性疾病,严重危害患者身心健康。利用线粒体置换技术替换卵母细胞中突变的mtDNA,是防止线粒体疾病遗传给下一代的重要手段。目前线粒体置换技术主要包括细胞质移植、原核移植、纺锤体-染色体复合物移植和极体移植,但这些技术仍存在技术安全性和伦理争议,尚未引入临床应用。本文重点归纳线粒体遗传病的遗传特性,详细介绍4种线粒体置换技术的原理和优缺点及其在人类和动物中的研究进展,同时对这些技术的安全性和伦理讨论进行综述,为线粒体置换技术在线粒体遗传病的防治提供理论参考。Mitochondrial genetic diseases are familial genetic diseases caused by the mutations of mitochondrial DNA(mtDNA),which seriously afect the physical and mental health of the patients.Mitochondrial replacement technology is applied to replace the mutant mtDNA in oocyte,and which is the important means to prevent mitochondrial discases of the next gencration.At present,mitochondrial replacement technology mainly includes cytoplasmic transplantation.pronuclear transfer,Spindle chromosome complex transfer,and polar body transfer.These technologies have safety and ethical controversies,and which have not yet been introduced into clinical applications.This article focuses on sum-marizing the genetic characteristics of the mitochondrial genetic diseases,and provides a detailed introduction to the principles,advantages and disadvantages of four mitochondrial replacement technologics,as well as rescarch progress in humans and animals.At the same time,the safety and ethical controversy of these technologies are reviewed for pro-viding the theory references in the prevention and treatment of the mitochondrial genetic diseases using mitochondrial replacement technology.

关 键 词：线粒体病 线粒体DNA 线粒体置换 伦理挑战 

分 类 号：R596[医药卫生—内科学]