利用辅助生殖技术阻断线粒体疾病发生与遗传的可行性探讨  

Blocking mitochondrial diseases with assisted reproductive technology

作　　者：罗世明 陈雷宁[1,2,3] 欧湘红[1,2,3] 孙青原 LUO ShiMing;CHEN LeiNing;OU XiangHog;SUN QingYuan(Reproductive Medicine Center Guangdong Second Provincial General Hospital,Guangzhou 510317,China;Guangdong-Hong Kong Metabolism&Reproduction Joint Laboratory,Guangdong Second Provincial General Hospital,Guangzhou 510317,China;Guangzhou Municipal Key Laboratory of Metabolic Diseases and Reproductive Health,Guangdong Second Provincial General Hospital,Guangzhou 510317,China)

机构地区：[1]广东省第二人民医院生殖医学中心,广州510317 [2]广东省第二人民医院,代谢与生殖粤港联合实验室,广州510317 [3]广东省第二人民医院,广州市代谢疾病与生殖健康重点实验室,广州510317

出　　处：《中国科学：生命科学》2024年第1期187-196,共10页Scientia Sinica(Vitae)

基　　金：国家自然科学基金(批准号:82071714)资助。

摘　　要：线粒体是细胞的能量工厂,线粒体DNA(mitochondrial DNA, mtDNA)突变会影响线粒体功能的发挥,进而引发线粒体疾病.线粒体功能的异常不仅影响各组织器官功能的发挥,也是影响个体发育的重要因素,尤其是对一些不可再生的细胞和组织,这种影响将是终生的,且没有任何治疗手段可对其进行恢复.近几年,有关mtDNA的基因编辑技术取得了重要进展,对已出生的线粒体疾病患者的治疗具有潜在重要意义,但无法阻断线粒体疾病向后代的传递.利用辅助生殖技术在胚胎形成时即对线粒体疾病进行阻断有可能成为最有效、可靠和简单的治疗和阻断线粒体疾病遗传的方法.本文将主要从有效性、安全性以及局限性等方面,探讨利用辅助生殖技术阻断线粒体疾病的发生与遗传的可行性.Mitochondria play a critical role in cellular energy production,and mutations in mitochondrial DNA(mtDNA)can lead to mitochondrial diseases.Mitochondrial dysfunction affects tissue and organ functions and significantly impacts individual development,especially in non-renewable cells and tissues.Recent advancements in gene editing technology have opened up new possibilities for treating individuals born with mitochondrial diseases,while this technology has no way to block the transgenerational transmission of mitochondrial diseases.Mitochondrial replacement during embryo formation,combined with assisted reproductive technology(ART),offers a promising approach to preventing the inheritance of mitochondrial diseases.This article discusses the feasibility of using mitochondrial replacement technology(MRT)during ART to block the occurrence and inheritance of mtDNA mutations from the perspectives of effectiveness,safety,and limitations.

关 键 词：线粒体DNA 线粒体疾病 辅助生殖技术 线粒体置换技术 

分 类 号：R714.8[医药卫生—妇产科学]