近日，英国纽卡斯尔大学Douglass M. Turnbull团队研究了线粒体捐赠在mtDNA疾病中的生殖保健途径。相关论文于2025年7月16日发表在《新英格兰医学杂志》上。

线粒体DNA（mtDNA）中的致病性变异是导致严重且往往致命的遗传性代谢疾病的常见原因。为了给携带致病性mtDNA变异的女性提供生育选择，研究组实施了一条生殖护理路径。共有22名携带致病性mtDNA变异的女性开始或完成了原核移植（即接受线粒体捐赠），并已有8例活产。 

所有8名儿童出生时均健康，血液中线粒体DNA（mtDNA）异质性水平为零或较低。一名母亲在孕期患有高脂血症的儿童出现了高脂血症和心律失常；该儿童的症状均对治疗有反应。另一名儿童出现了婴儿肌阵挛性癫痫，但随后自行缓解。截至本报告撰写时，所有儿童均发育正常。

附：英文原文

Title: Mitochondrial Donation in a Reproductive Care Pathway for mtDNA Disease

Author: Robert McFarland, Louise A. Hyslop, Catherine Feeney, Rekha N. Pillai, Emma L. Blakely, Eilis Moody, Matthew Prior, Anita Devlin, Robert W. Taylor, Mary Herbert, Meenakshi Choudhary, Jane A. Stewart, Douglass M. Turnbull

Issue&Volume: 2025-07-16

Abstract: Pathogenic variants in mitochondrial DNA (mtDNA) are a common cause of severe, often fatal, inherited metabolic disease. A reproductive care pathway was implemented to provide women carrying pathogenic mtDNA variants with reproductive options. A total of 22 women with pathogenic mtDNA variants have commenced or completed pronuclear transfer (and thus receipt of a mitochondrial donation), and there have been 8 live births. All 8 children were healthy at birth, with no or low levels of mtDNA heteroplasmy in blood. Hyperlipidemia and cardiac arrhythmia developed in a child whose mother had hyperlipidemia during pregnancy; both of the child’s conditions responded to treatment. Infant myoclonic epilepsy developed in another child, with spontaneous remission. At the time of this report, all the children have made normal developmental progress.

DOI: NJ202507160000002

Source: https://www.nejm.org/doi/full/10.1056/NEJMoa2503658