在PLCZ1中的新突变导致早期胚胎停止作为男性因子
Yunying Lin1,2, Yi Huang1,2, Boyu Li1,2
1Center for Reproductive Medicine Center, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Frontiers in cell and developmental biology
|June 1, 2023
概括
在PLCZ1的双基突变导致男性不孕症和早期胚胎停产. 人工卵细胞激活和切割转移挽救了受精,并导致受影响患者的活产.
科学领域:
- 生殖生物学 生殖生物学
- 人类遗传学 人类遗传学
- 辅助生殖技术 辅助生殖技术
背景情况:
- 早期胚胎停产是辅助生殖技术 (ART) 失败的重要原因.
- 虽然ACTL7a突变是已知的精子衍生遗传因子导致停药,但其他男性遗传因子仍未确定.
- PLCZ1是一种已知的基因,涉及到完全受精失败.
研究的目的:
- 识别导致早期胚胎停产的新型男性遗传因素.
- 研究PLCZ1突变在男性不孕症和早期胚胎发育中的作用.
- 探索与PLCZ1相关的不孕症患者的潜在治疗策略.
主要方法:
- 对不育男性的遗传分析发现了双基PLCZ1突变.
- 精子分析包括组织学和西式涂抹,以评估变体功能.
- 进行了体外受精 (IVF) 和带有人工卵细胞激活 (AOA) 的细胞内精子注射 (ICSI).
- 进行胚胎培养和移植,以评估发育潜力和临床结果.
主要成果:
- 确定了四名具有双基PLCZ1突变 (包括新型变异) 的不育男性,表现出功能丧失.
- 患者的精液参数正常,但在试管婴儿过程中多精子受精率高.
- 使用AOA的ICSI挽救了受精,但导致了显著的早期胚胎停产 (2-5细胞阶段).
- 分裂阶段转移导致了两个活产,表明PLCZ1在受精和早期胚胎发育中的关键作用.
结论:
- 新型双基PLCZ1突变有助于男性不孕症和早期胚胎停止.
- PLCZ1对于成功受精和受精后的早期胚胎发育至关重要.
- ICSI与AOA和分离阶段转移相结合,为PLCZ1相关的男性不孕症提供了潜在的治疗方法.
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