与神经发育障碍和大脑形相关的DPYSL5的误解变异在体外导致神经元成熟受损
Florence Desprez1, Solène Remize1,2, Liberty François-Moutal3
1Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.
Molecular psychiatry
|November 25, 2025
概括
在DPYSL5基因的de novo变异与神经发育障碍和大脑形有关. 我们的研究揭示了这些DPYSL5变体如何影响神经元发育和功能.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 发展生物学 发展生物学
背景情况:
- 带有大脑形的神经发育障碍 (NDD) 越来越多地与遗传因素有关.
- 编码类似二皮里米丁酶的蛋白质的DPYSL5基因最近已经成为这些条件中的潜在参与者.
研究的目的:
- 研究DPYSL5基因中新型和复发的de novo变异的分子和细胞作用.
- 在NDDs的背景下,描述这些变异对神经元发育和成熟的影响.
主要方法:
- 从患有DPYSL5误解变异和大脑形的个体收集临床数据.
- 在实验室功能分析中使用初级小鼠神经元培养物和人类诱导多能干细胞 (hiPSC) 衍生的神经干细胞.
- 评估DPYSL5变体对神经元发育的影响,包括树突树木化,轴突延长和突触密度.
主要成果:
- 在9个个体中,在DPYSL5中发现了6种不同的误解变异,包括复发性和新型突变.
- 常见的临床特征包括发育迟缓,智力障碍和大脑形,如大脑体的产生.
- 功能性测试表明DPYSL5变体会损害神经元发育,影响神经元外生和突触形成.
结论:
- DPYSL5变种在人类大脑的形成和功能中起着至关重要的作用.
- 这些发现扩大了对患有脑形的NDD遗传原因的理解,延伸到胎儿阶段.
- 突出显示DPYSL5是神经发育过程中的关键基因.
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