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本文引用的文献

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Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations.人类卵母细胞中线粒体置换携带致病性线粒体 DNA 突变。
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Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.走向原核移植技术预防线粒体DNA疾病的临床应用。
Nature. 2016 Jun 16;534(7607):383-6. doi: 10.1038/nature18303. Epub 2016 Jun 8.
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Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes.基因漂变可能会损害人类卵母细胞中通过核移植进行的线粒体替代。
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The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.线粒体 DNA 异质性的动态变化:对人类健康和疾病的影响。
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Mitochondrial replacement therapy in reproductive medicine.生殖医学中的线粒体替代疗法。
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Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases.线粒体DNA疾病植入前基因诊断的局限性
Cell Rep. 2014 May 22;7(4):935-7. doi: 10.1016/j.celrep.2014.05.004.
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In D-loop: 40 years of mitochondrial 7S DNA.在D环:线粒体7S DNA的40年
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8
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.TWINKLE 是一种必需的线粒体解旋酶,对于新生 D-loop 链的合成和完整 mtDNA 复制都是必需的。
Hum Mol Genet. 2013 May 15;22(10):1983-93. doi: 10.1093/hmg/ddt051. Epub 2013 Feb 7.
9
Rapid mitochondrial DNA segregation in primate preimplantation embryos precedes somatic and germline bottleneck.快速的线粒体 DNA 分离发生在灵长类动物胚胎的早期,早于体细和生殖系瓶颈。
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人类生殖系中的线粒体基因组遗传与替换

Mitochondrial genome inheritance and replacement in the human germline.

作者信息

Wolf Don P, Hayama Tomonari, Mitalipov Shoukhrat

机构信息

Center for Embryonic Cell and Gene Therapy, Oregon Health & Science University, Portland, OR, USA.

Division of Reproductive & Developmental Sciences, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR, USA.

出版信息

EMBO J. 2017 Aug 1;36(15):2177-2181. doi: 10.15252/embj.201797606. Epub 2017 Jul 5.

DOI:10.15252/embj.201797606
PMID:28679504
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5538763/
Abstract

Mitochondria, the ubiquitous power packs in nearly every eukaryotic cell, contain their own DNA, known as mtDNA, which is inherited exclusively from the mother. The number of mitochondrial genomes varies depending on the cell's energy needs. The mature oocyte contains the highest number of mitochondria of any cell type, although there is little if any mtDNA replication after fertilization until the embryo implants. This has potential repercussions for mitochondrial replacement therapy (MRT; see description of currently employed methods below) used to prevent the transmission of mtDNA-based disorders. If only a few mitochondria with defective mtDNA are left in the embryo and undergo extensive replication, it might therefore thwart the purpose of MRT In order to improve the safety and efficacy of this experimental therapy, we need a better understanding of how and which mtDNA is tagged for replication versus transcription after fertilization of the oocyte.

摘要

线粒体是几乎每个真核细胞中普遍存在的能量供应者,它们含有自己的DNA,即线粒体DNA(mtDNA),其遗传方式为母系遗传。线粒体基因组的数量因细胞的能量需求而异。成熟卵母细胞是所有细胞类型中线粒体数量最多的,不过受精后直到胚胎着床,线粒体DNA几乎没有复制。这对于用于预防基于线粒体DNA的疾病传播的线粒体替代疗法(MRT;见下文当前使用方法的描述)具有潜在影响。如果胚胎中仅留下少数具有缺陷线粒体DNA的线粒体并进行大量复制,那么这可能会阻碍线粒体替代疗法的目的。为了提高这种实验性疗法的安全性和有效性,我们需要更好地了解卵母细胞受精后线粒体DNA如何以及哪些被标记用于复制而非转录。