摘要
线粒体疾病是线粒体基因组发生基因突变所导致的一类遗传疾病,目前尚无治愈方法。近年核质置换技术的出现为线粒体疾病的治疗提供了新思路。现有的核质置换技术包括生发泡移植、纺锤体移植、极体移植和原核移植技术,其中生发泡移植涉及的体外成熟可影响卵母细胞的发育潜能;纺锤体移植最大的挑战是纺锤体组装对机械刺激敏感,缺乏核膜包绕,操作过程可能对纺锤体造成损伤;极体移植违背了自然选择过程,其远期影响尚不明了;原核移植操作方便、基础研究证据充分,具有短期内向临床转化的潜能,但使用已经受精的合子作为胞质供体面临的伦理争议较大。本文就4种核质置换技术治疗线粒体疾病的应用现状进行综述。
Mitochondrial disease is a kind of genetic disease caused by the mutation in mitochondria genome. There is not a cure method for it. Recently, the nuclear transfer techniques including germinal vesicle transfer, spindle transfer, polar body transfer and pronuclear transfer provide a new hope for the treatment of mitochondrial disease. The germinal vesicle transfer requires the in vitro maturation of oocytes which may affect the development potential of oocytes. The spindle transfer may be at the high risk of damaging spindle since the spindle assembly is sensitive to mechanical stimulus and chromosomes are not enclosed within a nuclear membrane at this stage. As for the polar body transfer, the long-term side-effect is not clear since this technique steps over the natural selection. Pronuclear transfer, with the advantage of easy operation and sufficient research evidences, has the potential of clinical transformation in a short time,although there is still a ethical concern in the cytoplasmic donor from the zygote discarding itself genetic material. This paper reviews the possible application of four kinds of mitochondrial replacement techniques in the treatment of mitochondrial diseases.
作者
李天杰
于洋
LI Tian-jie;YU Yang(Center for Reproductive Medicine,Department of Obstetrics and Gynecology,Peking University Third Hospital,Beijing 100191,China)
出处
《国际生殖健康／计划生育杂志》
CAS
2018年第5期388-392,共5页
Journal of International Reproductive Health/Family Planning
关键词
线粒体
核移植技术
合子
减数分裂
卵母细胞
受精
重组
遗传
Mitochondria
Nuclear transfer techniques
Zygote
Meiosis
Oocytes
Fertilization
Recombination
genetic
