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原核移植技术能否改变遗传病宿命?
Ke Ji Ri Bao· 2025-07-21 01:07
该技术通过将母亲受精卵中的核DNA,转移到一个健康捐赠者去核的卵子中,从而避免将母亲线 粒体中的致病突变遗传给下一代。由此产生的胚胎,携带了父母的核DNA和捐赠者的线粒体DNA,因 此被称为"三亲婴儿"。 英国纽卡斯尔大学领导的研究团队日前宣布,一项旨在预防线粒体DNA疾病遗传的开创性体外受 精技术——原核移植,已成功帮助8名婴儿健康出生。这些婴儿共有四男四女,其中一对为同卵双胞 胎。他们由7名携带高风险线粒体DNA突变的女性所生,但均未表现出任何线粒体疾病迹象。 这项技术一问世即被全球所瞩目,据公开报道,目前仅在英国和澳大利亚获得批准。 最新发表在《新英格兰医学杂志》上的两篇论文,详细记录了迄今为止进行的原核移植治疗的生殖 与临床结果。所有婴儿出生时均健康,且母亲的致病线粒体DNA突变基本检测不到或处于极低水平, 远低于引发疾病的阈值。 技术成功应用,仍需长期随访 线粒体疾病,由线粒体中的基因突变引发,可能导致肌肉无力、癫痫、发育迟缓、器官衰竭乃至死 亡。尽管常规体外受精检测可识别多数突变,但很多时候依然存在不确定性。这是"三亲婴儿"相关技术 得以出现的原因。 团队在报告中称,22例实验最终培育出8名婴儿, ...
里程碑:全球首批“三亲婴儿”诞生并健康成长,8名宝宝改写遗传宿命
生物世界· 2025-07-18 04:06
Core Viewpoint - The article discusses a groundbreaking study published in the New England Journal of Medicine (NEJM) that reports the birth of eight healthy "three-parent babies" through mitochondrial donation, which offers hope for families affected by mitochondrial diseases [2][3][11]. Group 1: Mitochondrial Diseases and Their Treatment - Mitochondrial diseases, caused by pathogenic mutations in mitochondrial DNA (mtDNA), primarily affect high-energy organs such as the heart, brain, and muscles, often leading to severe health issues and lack of effective treatments [2][5]. - The technique involves transferring the nucleus of an egg from a mother with pathogenic mtDNA into a donor egg that has had its nucleus removed, allowing for the birth of children without the mother's mitochondrial diseases [5][7]. Group 2: Birth of "Three-Parent Babies" - A total of 22 women with pathogenic mtDNA mutations underwent mitochondrial donation treatment, resulting in the successful birth of eight children (including a set of twins), with the oldest being over two years old and the youngest under five months [16]. - Among the eight children, five have shown no health issues, while others experienced minor, treatable conditions, indicating initial success in preventing mitochondrial diseases [16][18]. Group 3: Ethical Considerations and Future Outlook - The technique raises significant ethical questions and has been the subject of intense debate, leading to the UK being the first country to legislate and regulate mitochondrial donation for clinical use [9][20]. - Despite the promising results, researchers urge caution due to the small sample size and short follow-up period, as some children still carry low levels of maternal pathogenic mtDNA, necessitating further long-term studies to confirm safety and efficacy [20].