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线粒体捐赠和植入前对mtDNA疾病进行基因检测

Louise A Hyslop¹, Emma L Blakely², Magomet Aushev³

¹Newcastle Fertility Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, United Kingdom.

The New England journal of medicine

|July 17, 2025

概括

通过前核转移和植入前遗传测试进行线粒体捐赠有效地减少线粒体DNA (mtDNA) 引起疾病的变体的传播. 这些先进的生殖技术为携带致病性mtDNA变异的妇女提供了希望,让她们有健康的孩子.

科学领域:

生殖医学生殖医学
遗传学遗传学是一个
线粒体生物学线粒体生物学

背景情况:

线粒体DNA (mtDNA) 疾病对患有致病性mtDNA变异的母亲生下的孩子构成风险.
通过前核转移进行线粒体捐赠提供了一种减少mtDNA疾病传播的方法.
这种技术涉及将核基因组转移到无核的捐赠卵.

研究的目的:

评估线粒体捐赠 (核转移) 和植入前遗传检测 (PGT) 对具有传播mtDNA疾病风险的妇女的疗效和安全性.
评估这些方法对减少致病性mtDNA变体传播的影响.

主要方法:

为患有同质细胞或高异质细胞致病性mtDNA变异的患者提供了前核转移.
提供PGT给患有异性质致病性mtDNA变异的患者.
监测临床怀孕,活产和婴儿异质体水平.

主要成果:

在36% (前核转移) 和41% (PGT) 的患者中实现了临床怀孕.
前核转移导致8个活产和1个正在进行的怀孕;PGT导致18个活产.
通过前核转移产生的婴儿显示出明显降低了母亲致病mtDNA变异的水平,从无法检测到16%的异质体.

结论:

通过前核转移进行线粒体捐赠与人类胚胎活力相兼容.
一个综合的前核转移和PGT程序有效地减少了同质细胞和异质细胞致病mtDNA变体的传播.
这些方法为妇女提供了一个可行的选择,可以生育具有较低mtDNA疾病风险的遗传相关儿童.

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