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Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases

机译:线粒体DNA替代技术以防止人体线粒体疾病

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摘要

Background: Mitochondrial DNA (mtDNA) diseases are a group of maternally inherited genetic disorders caused by a lack of energy production. Currently, mtDNA diseases have a poor prognosis and no known cure. The chance to have unaffected offspring with a genetic link is important for the affected families, and mitochondrial replacement techniques (MRTs) allow them to do so. MRTs consist of transferring the nuclear DNA from an oocyte with pathogenic mtDNA to an enucleated donor oocyte without pathogenic mtDNA. This paper aims to determine the efficacy, associated risks, and main ethical and legal issues related to MRTs. Methods: A bibliographic review was performed on the MEDLINE and Web of Science databases, along with searches for related clinical trials and news. Results: A total of 48 publications were included for review. Five MRT procedures were identified and their efficacy was compared. Three main risks associated with MRTs were discussed, and the ethical views and legal position of MRTs were reviewed. Conclusions: MRTs are an effective approach to minimizing the risk of transmitting mtDNA diseases, but they do not remove it entirely. Global legal regulation of MRTs is required.
机译:背景:线粒体DNA(MTDNA)疾病是由缺乏能源生产引起的潜在遗传遗传障碍。目前,MTDNA疾病预后差和未知治疗。没有遗传联系未受影响的后代的机会对受影响的家庭来说很重要,并且线粒体替代技术(MRTS)允许他们这样做。 MRTS包括将核DNA与卵母细胞转移到致病的MTDNA中,未致病的MTDNA。本文旨在确定与MRTS相关的有效性,相关风险和主要的道德和法律问题。方法:在科学数据库的Medline和Web上进行书目综述,以及搜索相关的临床试验和新闻。结果:共有48个出版物进行审查。确定了五个MRT程序,并比较了它们的疗效。讨论了与MRTS相关的三个主要风险,综述了MRTS的道德观点和法律地位。结论:MRTS是最大限度地减少传输MTDNA疾病的风险的有效方法,但它们不会完全删除它。需要全球MRTS的法律监管。

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