在LRRC23中出现的新突变会导致非血缘系家族中的精
Song-Xi Tang1, Si-Yu Liu2, Hong Xiao1
1Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China.
Asian journal of andrology
|July 26, 2024
概括
两种新型LRRC23基因突变通过影响精子鞭子结构和运动性,导致精子精症 (AZS). 然而,体外受精为受影响的个体提供了一条成功的父亲之路.
科学领域:
- 遗传学 遗传学 是一个
- 生殖生物学 生殖生物学
- 细胞生物学 细胞生物学
背景情况:
- 精精症 (AZS) 的病因复杂且异质,少数病例涉及遗传因素.
- 辐射射线 (RSs) 对精子运动性和轴突稳定性至关重要.
- LRRC23基因突变是男性不孕不育的潜在原因,但尚未得到充分研究.
研究的目的:
- 为了调查非血缘家族中AZS的遗传原因.
- 为了确定与男性不孕症相关联的LRRC23基因中的新突变.
- 阐明LRRC23突变影响精子功能的机制.
主要方法:
- 基因分析以确定LRRC23基因中的突变.
- 使用Diff-Quik染色和扫描电子显微镜进行精子形态评估.
- 通过西式涂抹和免疫光学分析蛋白质表达.
- 使用传输电子显微镜对精子鞭毛进行超结构分析.
主要成果:
- 在AZS试验中,在LRRC23基因中发现了化合物异构基因突变 (c.1018C>T:p.Q340X和c.881_897 Del:p.R295Gfs*32).
- 突变导致精子鞭毛体中抑制LRRC23的表达.
- 在精子鞭状体中缺少放射性脊柱3 (RS3),扰乱放射性脊柱复合体并损害运动性.
- 没有观察到异常的精子形态.
结论:
- 新的LRRC23突变与精和男性不孕症有关.
- 鉴定到的突变破坏了精子鞭毛体的结构和功能,特别是放射性脊柱复合体.
- 在体外受精和胚胎移植 (IVF-ET) 可以导致成功怀孕和健康婴儿的分娩在受影响的个体.
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