生殖遗传技术预防线粒体遗传病的研究进展  

Research Progress in the Prevention of Mitochondrial Genetic Diseases by Reproductive Genetic Technology

作　　者：纪冬梅[1] 曹云霞(审校)[1] JI Dong-mei;CAO Yun-xia(Reproductive Medicine Center,Department of Obstetrics and Gynecology,The First Affiliated Hospital of Anhui Medical University,NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract(Anhui Medical University),Hefei 230032,China)

机构地区：[1]安徽医科大学第一附属医院妇产科生殖医学中心,国家卫生健康委配子及生殖道异常研究重点实验室,合肥230032

出　　处：《国际生殖健康／计划生育杂志》2020年第2期153-157,162,共6页Journal of International Reproductive Health/Family Planning

基　　金：国家自然科学基金(81601345,81871216,81971455)。

摘　　要：发生在卵子中的线粒体DNA(mitochondrial DNA,mtDNA)突变引起母系家族性疾病,即线粒体遗传病。线粒体遗传病通常在婴幼儿期发病,且绝大多数线粒体疾病影响到多器官系统的正常功能,是一类严重危害人类健康的可致残致死性疾病,无有效药物治疗,故女性患者不建议生育。mtDNA遗传学特征使得很多携带致病性mtDNA突变女性的遗传咨询更加困难,但可以考虑通过生殖遗传干预的方法帮助生育,降低后代患有线粒体遗传病的风险。胚胎植入前遗传学检测(preimplantation genetic testing,PGT)与产前诊断技术可检测突变mtDNA水平,选择正常的胚胎移植或者预防携带高水平突变mtDNA子代的出生,但并不适于所有患者。线粒体置换技术的诞生为预防严重线粒体遗传病带来希望,有望使后代患有线粒体遗传病的风险最小化,但其长期安全性、有效性仍需进一步研究。Mutations in mitochondrial DNA(mtDNA) that occur in oocytes cause the maternal inherited disorders, known as mitochondrial genetic disease. Mitochondrial genetic diseases usually occur in infants, while most of inherited mtDNA-related diseases affect the function of multiple organs and systems. Therefore,mitochondrial genetic diseases are a series of disabling and fatal diseases that could endanger human health seriously, without effective medical treatment. Those female patients with mitochondrial genetic diseases are not recommended to give birth. Genetic characteristics of mtDNA make the prenatal and pre-pregnancy counseling more difficult for many women with pathogenic mtDNA mutations. The modern reproductive genetic interventions could be considered to reduce the risk of inherited mtDNA-related diseases transmitted to offspring.Preimplantation genetic testing(PGT) and prenatal diagnostic techniques may detect the level of mtDNA mutations,and select normal embryos for transplantation or prevent the birth of offspring with the high levels of mutations.However, these techniques may not be appropriate for all patients. The mitochondrial replacement technique has brought new hope for the prevention of serious inherited mtDNA-related diseases, which is expected to minimize the risk of mtDNA-related diseases in their offspring. The long-term safety and effectiveness should be further studied.

关 键 词：DNA 线粒体 线粒体遗传病 遗传性疾病 先天性 胚胎植入前遗传学诊断 植入前诊断 产前诊断 线粒体置换 纺锤体移植 原核移植 极体移植 线粒体替代疗法 

分 类 号：R714.8[医药卫生—妇产科学]