Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.
复制标题
作者：
线粒体DNA(MtDNA)突变是遗传病的常见原因，在英国，大约每250名活产儿中就有1人检测到致病性mtDNA突变，每10,000名成年人中至少有1人受到mtDNA病的影响。线粒体DNA病患者的治疗选择极其有限，而且主要是支持性的。线粒体DNA是通过母体传播的，核移植技术可能是防止人类线粒体DNA疾病传播的一种方法。在这里，我们表明，在异常受精的人类受精卵之间转移原核会导致供体受精卵mtDNA的最小携带，并与体外发育到囊胚期相一致。通过对程序的优化，我们发现两个原核移植后的平均携带水平为2.0%，许多胚胎中没有可检测到的供体线粒体DNA。我们相信，受精卵之间的原核转移，以及最近描述的中期II纺锤体转移，有可能防止mtDNA疾病在人类中的传播。
Mitochondrial DNA (mtDNA) mutations are a common cause of genetic disease with pathogenic mtDNA mutations being detected in approximately 1 in 250 live births and at least 1 in 10,000 adults in the UK affected by mtDNA disease. Treatment options for patients with mtDNA disease are extremely limited and are predominantly supportive in nature. MtDNA is transmitted maternally and it has been proposed that nuclear transfer techniques may be an approach to prevent the transmission of human mtDNA disease. Here we show that transfer of pronuclei between abnormally fertilised human zygotes results in minimal carry-over of donor zygote mtDNA and is compatible with onward development to the blastocyst stage in vitro. By optimising the procedure we found the average level of carry-over following transfer of two pronuclei is <2.0%, with many of the embryos containing no detectable donor mtDNA. We believe that pronuclear transfer between zygotes, as well as the recently described metaphase II spindle transfer, has potential to prevent the transmission of mtDNA disease in humans.
登录
查看更多内容
DOI：
10.1038/nrg1606
发表时间：
2005-05
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
3.1
作者：
Tajima, Hiroto;Sueoka, Kou;Yoshimura, Yasunori
通讯作者：
Yoshimura, Yasunori
影响因子：
1.7
作者：
Almeida, PA;Bolton, VN
通讯作者：
Bolton, VN
影响因子：
9.8
作者：
Elliott, Hannah R.;Samuels, David C.;Eden, James A.;Relton, Caroline L.;Chinnery, Patrick F.
通讯作者：
Chinnery, Patrick F.
影响因子：
14.9
作者：
Taylor, RW;Taylor, GA;Turnbull, DM
通讯作者：
Turnbull, DM