线粒体基因转移的临床及伦理意义
Clinical and ethical implications of mitochondrial gene transfer.
作者信息
Mitalipov Shoukhrat, Wolf Don P
机构信息
Oregon National Primate Research Center, Oregon Health and Science University, 505 North West 185th Avenue, Beaverton, OR 97006, USA.
Oregon National Primate Research Center, Oregon Health and Science University, 505 North West 185th Avenue, Beaverton, OR 97006, USA.
出版信息
Trends Endocrinol Metab. 2014 Jan;25(1):5-7. doi: 10.1016/j.tem.2013.09.001.
Abstract
Inherited diseases caused by mitochondrial gene (mtDNA) mutations affect at least 1 in 5000-10,000 children and are associated with severe clinical symptoms. Novel reproductive techniques designed to replace mutated mtDNA in oocytes or early embryos have been proposed to prevent transmission of disease from parents to their children. Here we review the efficacy and safety of these approaches and their associated ethical and regulatory issues.
摘要
由线粒体基因（mtDNA）突变引起的遗传性疾病影响着至少五千分之一至一万分之一的儿童，并伴有严重的临床症状。为防止疾病从父母传给子女，人们提出了旨在替换卵母细胞或早期胚胎中突变mtDNA的新型生殖技术。在此，我们综述了这些方法的有效性和安全性及其相关的伦理和监管问题。
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本文引用的文献
1
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants.人类卵母细胞中的核基因组转移消除了线粒体 DNA 变异。
Nature. 2013 Jan 31;493(7434):632-7. doi: 10.1038/nature11800. Epub 2012 Dec 19.
2
Towards germline gene therapy of inherited mitochondrial diseases.遗传性线粒体疾病的种系基因治疗。
Nature. 2013 Jan 31;493(7434):627-31. doi: 10.1038/nature11647. Epub 2012 Oct 24.
3
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.将原核转移到人类胚胎中，以防止线粒体 DNA 疾病的传播。
Nature. 2010 May 6;465(7294):82-5. doi: 10.1038/nature08958. Epub 2010 Apr 14.
4
Mitochondrial gene replacement in primate offspring and embryonic stem cells.灵长类动物后代及胚胎干细胞中的线粒体基因替换
Nature. 2009 Sep 17;461(7262):367-72. doi: 10.1038/nature08368. Epub 2009 Aug 26.
5
Pathogenic mitochondrial DNA mutations are common in the general population.致病性线粒体DNA突变在普通人群中很常见。
Am J Hum Genet. 2008 Aug;83(2):254-60. doi: 10.1016/j.ajhg.2008.07.004.
6
Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation.通过核移植对携带致病性线粒体DNA的线粒体小鼠后代进行基因治疗。
Proc Natl Acad Sci U S A. 2005 Nov 15;102(46):16765-70. doi: 10.1073/pnas.0506197102. Epub 2005 Nov 7.
7
Nuclear transplantation in the mouse embryo by microsurgery and cell fusion.通过显微手术和细胞融合对小鼠胚胎进行核移植。
Science. 1983 Jun 17;220(4603):1300-2. doi: 10.1126/science.6857250.
8
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA突变。
Science. 1988 Dec 9;242(4884):1427-30. doi: 10.1126/science.3201231.
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