确定CFAP221变种与人类的阿斯诺特拉托动物精子症之间的因果关系
Gan Shen1,2, Erpo Tian3,4, Chuan Jiang2
1Department of Physiology, Shantou University Medical College, Shantou, 515041, China.
Journal of assisted reproduction and genetics
|April 24, 2025
概括
CFAP221中的遗传变异会导致男性不育,影响精子鞭毛的结构和功能. 内细胞质精子注射 (ICSI) 为受影响的个体提供了潜在的治疗方法.
科学领域:
- 遗传学 遗传学 是一个
- 生殖生物学 生殖生物学
- 分子生物学分子生物学
背景情况:
- 男性不孕症影响了试图怀孕的夫妇的很大一部分.
- 精子生长不良和异常形态的特征,是男性不育的主要原因之一.
- 确定这些疾病的遗传基础对于诊断和治疗至关重要.
研究的目的:
- 在两个无关的中国家庭中,确定与阿斯诺特拉托动物精子症相关的男性不孕症的新型遗传原因.
- 研究CFAP221基因在精子发育和功能中的作用.
主要方法:
- 整体外体测序 (WES) 和桑格测序用于识别遗传变异.
- 使用帕帕尼科劳染料,扫描电子显微镜 (SEM) 和传输电子显微镜 (TEM) 分析了精子形态和超结构.
- 使用免疫光染色,单细胞RNA测序和生物信息学分析来确定CFAP221的表达和相互作用.
主要成果:
- 在CFAP221基因中的致病性双变异在两个家族的不孕男性中被确定.
- 在受影响的个体中观察到异常的精子鞭状体形态和超结构.
- 发现CFAP221对精子鞭子发育至关重要,与其他关键蛋白质相互作用,其功能障碍导致不孕,可以通过细胞内质精子注射 (ICSI) 挽救.
结论:
- CFAP221被确定为男性不孕症的新型致病基因.
- 这些发现为男性不孕症的临床诊断和治疗提供了宝贵的见解,特别是指导ICSI程序.
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