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Novel reproductive technologies to prevent mitochondrial disease
Human Reproduction Update ( IF 13.3 ) Pub Date : 2017-06-23 , DOI: 10.1093/humupd/dmx018
Lyndsey Craven 1 , Mao-Xing Tang 2 , Gráinne S. Gorman 1 , Petra De Sutter 2 , Björn Heindryckx 2
Affiliation  

The use of nuclear transfer (NT) has been proposed as a novel reproductive treatment to overcome the transmission of maternally-inherited mitochondrial DNA (mtDNA) mutations. Pathogenic mutations in mtDNA can cause a wide-spectrum of life-limiting disorders, collectively known as mtDNA disease, for which there are currently few effective treatments and no known cures. The many unique features of mtDNA make genetic counselling challenging for women harbouring pathogenic mtDNA mutations but reproductive options that involve medical intervention are available that will minimize the risk of mtDNA disease in their offspring. This includes PGD, which is currently offered as a clinical treatment but will not be suitable for all. The potential for NT to reduce transmission of mtDNA mutations has been demonstrated in both animal and human models, and has recently been clinically applied not only to prevent mtDNA disease but also for some infertility cases. In this review, we will interrogate the different NT techniques, including a discussion on the available safety and efficacy data of these technologies for mtDNA disease prevention. In addition, we appraise the evidence for the translational use of NT technologies in infertility.

中文翻译:

预防线粒体疾病的新型生殖技术

已经提出使用核转移(NT)作为一种新的生殖治疗方法,以克服母体遗传的线粒体DNA(mtDNA)突变的传播。mtDNA的致病性突变可引起广谱的限制生命的疾病,这些疾病统称为mtDNA疾病,目前尚无有效的治疗方法,也没有已知的治疗方法。mtDNA的许多独特特征使遗传咨询对携带致病性mtDNA突变的女性具有挑战性,但是可以通过涉及医学干预的生殖选择来最大程度地降低其子代mtDNA疾病的风险。这包括PGD,目前已将其作为临床治疗方法提供,但并不适合所有人。在动物和人类模型中都证明了NT减少mtDNA突变传播的潜力,并且最近已在临床上不仅用于预防mtDNA疾病,而且还用于某些不育病例。在本文中,我们将探讨不同的NT技术,包括有关这些技术用于mtDNA疾病预防的可用安全性和有效性数据的讨论。此外,我们评估了NT技术在不育症中转化性使用的证据。
更新日期:2017-06-23
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