在PCD相关基因DNAAF3中发生的一种新型突变,导致由于生精子症而导致男性不孕症
Feng Wan1,2,3, Lan Yu1,2,3, Xiaowei Qu1,2,3
1The Reproductive Medicine Center, Henan Provincial People's Hospital, Zhengzhou, China.
Journal of cellular and molecular medicine
|August 4, 2023
概括
初级状动力障碍 (PCD) 是一种罕见的遗传疾病. 一个新的DNAAF3突变导致了由于精子鞭毛缺陷的严重男性不孕症,但通过ICSI成功怀孕.
科学领域:
- 遗传学 遗传学 是一个
- 生殖医学 生殖医学
- 细胞生物学 细胞生物学
背景情况:
- 初级状动力障碍 (PCD) 是一种罕见的自体衰退性疾病,其特征是呼吸道感染和不孕症.
- DNAAF3基因与PCD有关,各种突变导致不同的临床表现.
- 患有PCD的男性的精子缺陷,特别是那些具有DNAAF3突变的精子缺陷,仍未得到充分研究.
研究的目的:
- 在患有原发性状动力障碍和不孕症的患者中研究精子表型.
- 确定患者病情的遗传原因及其对精子功能的影响.
- 扩大对DNAAF3突变及其在男性不孕症中的作用的理解.
主要方法:
- 整体外因子测序和桑格测序用于识别DNA突变.
- 传输电子显微镜和免疫染色以分析精子超结构和蛋白质组成.
- 临床评估,包括呼吸和生殖健康的评估.
主要成果:
- 在PCD患者中发现了DNAAF3 (c.551T>A; p.V184E) 的新型同卵性突变.
- 精子分析显示,外侧双干完全缺失,内侧双干部分缺失,导致运动能力降低 (严重的精).
- 患者的不孕症通过细胞内质精子注射 (ICSI) 成功治疗,导致怀孕成功.
结论:
- 在DNAAF3的致病突变可以导致严重的精和男性不孕症在人类由于缺陷的精子鞭状轴突.
- 这项研究提高了对DNAAF3突变患者的精子特征的理解.
- 这些发现有助于基因诊断和PCD不育患者的潜在治疗策略.
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