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在PATL中的新型遗传变异2与女性不孕不育的不同临床表型相对应

Xiaotao Yang¹, Xiangrui Shi¹, Jing Wang¹

¹Reproductive Medicine Center, Daping Hospital, Army Medical University, Chongqing, 400042, China.

International journal of medical sciences

|July 14, 2025

概括

在PATL2基因的致病变体导致卵细胞,胚胎和胚胎成熟停止 (OZEMA),导致女性不孕. 这项研究确定了新的和复发的PATL2变异,揭示了它们对辅助生殖结果的重大影响.

科学领域:

遗传学和生殖生物学
分子和细胞生物学分子和细胞生物学

背景情况:

PATL2 是一种RNA结合蛋白,对于雌性性体生和早期胚胎发育中的mRNA稳态至关重要.
PATL2中的致病变体与卵细胞,胚胎和胚胎成熟停止 (OZEMA) 有关,导致初级不孕症和失败的辅助生殖.
了解PATL2变异的影响对于诊断和治疗女性不孕症至关重要.

研究的目的:

在患者中识别和鉴定PATL2变异的原因不明的不孕不育.
调查已识别的PATL2变异对蛋白质结构和功能的功能影响.
将遗传发现与女性不孕症和辅助生殖结果的临床表型相关联.

主要方法:

基因分析以确定受影响家庭中的PATL2变异.
分子动力学模拟以评估已识别变异的结构影响.
in silico发现与临床数据和蛋白质表达水平的相关性.

主要成果:

已识别出复合异性误解变体 (新型c.1373T>C [p.I458T]和报告的c.877G>T [p.D293Y]) 和同性误解变体 (复发的c.839G>A [p.R280Q]).
分子动力学模拟表明,PATL2蛋白因I458T和D293Y变异而受到严重的结构损伤,这表明其功能受损严重.
计算结果与临床表型和先前观察到的减少的PATL2蛋白水平一致.

结论:

新型和复发的PATL2变异显著影响女性生育能力.
已识别的变异为OZEMA和失败的辅助生殖提供了机械洞察力.
这项研究加深了对PATL2在生殖成功中的作用的理解,并为潜在的治疗策略提供了信息.

关键词:

在PATL2变种中.分子动力学模拟模拟卵细胞成熟停止停止初级不孕不育的主要原因造成的结构损坏.

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