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DNAH17中的新型变异会导致精子鞭毛外侧肌缺陷,但在ICSI后不会导致完全受精失败

Xiangrong Tang¹, Shunhua Long¹, Fei Xie²

¹Chongqing Key Laboratory of Human Embryo Engineering and Precision Medicine, Centre for Reproductive Medicine, Women and Children's Hospital of Chongqing Medical University, Chongqing, China; Chongqing Clinical Research Centre for Reproductive Medicine, Chongqing Health Centre for Women and Children, Chongqing, China.

Reproductive biomedicine online

|February 26, 2025

概括

染色体轴突重链17 (DNAH17) 基因中的新型变异导致男性不孕症和精子鞭毛 (MMAF) 的多重形态异常. DNAH17 缺乏影响精子功能和受精,为遗传诊断提供了见解.

科学领域:

遗传学是一个遗传学.
生殖生物学生殖生物学
分子生物学分子生物学

背景情况:

男性不孕症是一个重要的健康问题,具有复杂的遗传基础.
精子鞭子多重形态异常 (MMAF) 是一种严重的男性不孕症,通常与遗传因素有关.

研究的目的:

为了识别与男性不孕症相关联的dynein轴突重链17 (DNAH17) 基因中的新型变异.
在分子层面上研究DNAH17缺乏和完全受精失败 (TFF) 之间的关系.

主要方法:

在75名患有MMAF的中国患者中进行全外和桑格测序.
使用帕帕尼科劳染色和电子显微镜进行精子形态和超结构分析.
蛋白质组和功能分析,以评估DNAH17缺乏的影响.

主要成果:

在不育的男性中发现了十种新型的自体递归DNAH17变异,导致精子中DNAH17缺乏.
DNAH17 缺乏导致鞭毛超结构缺陷,损害了外层双蛋白臂的组合,影响了体反应,并扰乱了线粒体功能.
脂酶C zeta度降低表明DNAH17缺乏和TFF之间存在间接联系;细胞体内精子注射产生了可移植胚胎.

结论:

这项研究扩展了已知的DNAH17变体,澄清了它在男性不孕症和MMAF中的作用.
DNAH17 缺乏对精子功能和受精有复杂而异质的影响.
这些发现为MMAF和DNAH17相关不孕症男性的遗传诊断和咨询提供了关键的见解.

关键词:

辅助生殖技术是一种辅助生殖技术.阿斯诺特拉托佐索精子缺陷症 DNAH17 DNAH17是什么意思在MMAF中,MMAF是MMAF.总的受精失败是完全的受精失败.

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