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在人类植入前发育过程中对线粒体DNA变异分离的概述:对线粒体DNA相关疾病的植入前遗传测试的先决条件

Paula Rubens^1,2, Anne Mayeur³, Kalliopi Chatzovoulou^1,2

¹Université Paris Cité, Imagine Institute, Genetics of Mitochondrial Diseases, INSERM UMR 1163, Paris, France.

Human reproduction (Oxford, England)

|April 2, 2025

概括

线粒体DNA (mtDNA) 疾病的植入前遗传测试在后来的胚胎阶段是可行的. 致病性mtDNA变异均分离,支持在第4天的芽细胞体和第5/6天的肌体样本上进行遗传分析.

科学领域:

生殖生物学生殖生物学
遗传学遗传学是一个
胚胎学胚胎学

背景情况:

线粒体DNA (mtDNA) 疾病的植入前遗传测试 (PGT-mt) 在分裂阶段建立.
由于未知的mtDNA变异分离模式,后期胚胎阶段 (紧缩和胚胎囊) 的可行性是不确定的.
从静止mtDNA复制到囊胚阶段的潜在"瓶"效应对PGT-mt.构成了挑战.

研究的目的:

确定PGT-mt在早期压缩和胚胎囊阶段的可行性.
研究在人类植入前发育过程中致病性mtDNA变异的分离.
评估不同胚胎样本基因分析的可靠性.

主要方法:

分析了112个具有致病性mtDNA变异的胚胎和28个对照组.
评估单个细胞中的异质体水平,从体皮 (TE),内细胞质量和 TE 分裂,早期紧缩和胚胎囊阶段.
半定量PCR放大用于异质体水平的确定.

主要成果:

线粒体DNA (mtDNA) 变异在早期紧缩 (4日) 期间在胚芽细胞之间均分离.
在裂变和胚胎囊阶段之间,mtDNA比率保持稳定.
在单个TE细胞 (1/8胚胎) 中显著的异质质变异表明,通过标准TE活检,PGT在5-10个细胞中可靠.

结论:

在早期的紧缩和胚胎囊阶段,PGT-mt是可行的,支持后来的活检方法.
即使是病原性mtDNA变异的分离也验证了第4天布拉斯托马和第5/6天TE样本的遗传分析.
未来的PGT-mt应该考虑分析的TE细胞数量,对于异质体怀孕建议进行乳液化.

关键词:

不同质体性质的异质体.人类植入前胚胎胚胎线粒体中的线粒体.这是线粒体DNA的DNA.摩细胞活组织检查在mtDNA分离过程中.致病性 mtDNA 变体植入前遗传检测是植入前的基因检测.托菲克托德的皮肤活检.

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