McFarland Robert, Hyslop Louise A, Feeney Catherine, Pillai Rekha N, Blakely Emma L, Moody Eilis, Prior Matthew, Devlin Anita, Taylor Robert W, Herbert Mary, Choudhary Meenakshi, Stewart Jane A, Turnbull Douglass M
Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
N Engl J Med. 2025 Jul 31;393(5):461-468. doi: 10.1056/NEJMoa2503658. Epub 2025 Jul 16.
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. (Funded by the U.K. National Health Service and others.).
线粒体DNA(mtDNA)中的致病变异是严重的、通常致命的遗传性代谢疾病的常见病因。实施了一种生殖护理途径,为携带mtDNA致病变异的女性提供生殖选择。共有22名携带mtDNA致病变异的女性开始或完成了原核移植(从而接受了线粒体捐赠),并有8例活产。所有8名儿童出生时均健康,血液中的mtDNA异质性水平无或较低。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;该儿童的这两种病症对治疗均有反应。另一名儿童出现了婴儿肌阵挛性癫痫,并自发缓解。在本报告发布时,所有儿童的发育均正常。(由英国国家医疗服务体系等资助。)