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新的PLCZ1突变在体外受精过程中引起多精子症

Ke-Ya Tong^1,2, Wei-Wei Liu^1,2, Li-Wei Sun^1,2

¹Chongqing Key Laboratory of Human Embryo Engineering, Center for Reproductive Medicine, Women and Children's Hospital of Chongqing Medical University, Chongqing 400012, China.

Asian journal of andrology

|March 6, 2024

概括

脂酶C zeta 1 (PLCZ1) 突变与体外受精 (IVF) 期间的多精子有关. 这项研究确定了新的PLCZ1突变,并证明辅助卵细胞激活 (AOA) 可以克服受精问题,导致成功怀孕.

科学领域:

生殖生物学生殖生物学
人类遗传学人类遗传学
发展生物学发展生物学

背景情况:

卵细胞激活失败,包括多精子症和异常前核 (PN) 形成,导致早期胚胎停止.
虽然已知脂酶C zeta 1 (PLCZ1) 突变在细胞内精子注射 (ICSI) 后导致PN形成失败,但它们在体外受精 (IVF) 期间多精子症中的作用尚不清楚.

研究的目的:

在接受试管婴儿的患者中调查PLCZ1突变和多精子症之间的关联.
探索PLCZ1突变对卵细胞激活和前核细胞形成的功能影响.
评估辅助卵细胞激活 (AOA) 在克服由PLCZ1突变引起的受精缺陷方面的疗效.

主要方法:

整体外因子测序 (WES) 用于在不育夫妇中识别候选PLCZ1突变.
桑格测序被用于突变验证.
试验涉及注射PLCZ1突变精子到人类和小鼠卵细胞进行,以评估PN的形成.
在ICSI后进行了辅助卵细胞激活 (AOA),以管理受精失败.

主要成果:

在IVF期间经历多精子症的患者中发现了三种PLCZ1突变,包括一种新的误解突变 (c.1154C>T,p.R385Q).
在具有这些突变的ICSI周期中观察到PN形成失败.
注射多个PLCZ1突变精子成功诱导PN形成,表明精子衍生的振荡超过PN形成的值.
在ICSI后的AOA导致所有受影响患者的正常受精和成功怀孕.

结论:

这些发现扩大了已知的PLCZ1突变谱,并突出了它在预防多精子症方面的作用.
PLCZ1突变与精子衍生的多精子症和随后的受精失败有关.
这项研究为异常受精的遗传诊断提供了宝贵的见解,并建议AOA作为与PLCZ1相关的多种子症患者的潜在治疗策略.

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