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人类皮质器官中神经发育缺陷,N-乙神经胺酸合成酶突变

Qian Bu^1,2, Yanping Dai¹, Huaqin Zhang¹

¹Mental Health Center and National Chengdu Center for Safety Evaluation of Drugs, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

Science advances

|November 24, 2023

概括

在N-乙神经胺酸合成酶 (NANS) 的遗传变异破坏酸生物合成,导致神经发育障碍. 我们的研究表明,NANS对于人类大脑发育和神经前功能至关重要.

科学领域:

神经科学是一个神经科学.
生物化学生化学
发展生物学发展生物学

背景情况:

在N-乙神经胺酸合成酶 (NANS) 中的双基因变异与神经发育障碍有关.
这些疾病中导致神经病理的确切机制尚不清楚.

研究的目的:

阐明NANS在内源性酸生物合成中的作用及其对人类皮质发育的影响.
为了研究NANS突变的神经病理后果.

主要方法:

使用了来自NANS突变患者的皮质器官.
进行单细胞RNA测序以分析转录变化.
研究了Nans异合体小鼠,以评估神经发生和神经行为缺陷.

主要成果:

NANS突变导致皮质有机体中完全缺少酸和蛋白质聚化.
神经前体的增殖,迁移,分化,突触形成和神经元活动显著受损.
单细胞RNA测序确定了神经元分化和核糖体生物发生过程中的改变的转录程序.
纳斯异质合体小鼠表现出皮质神经发生障碍和表现出神经行为缺陷.

结论:

通过NANS介导的酸生物合成对于人类皮质发育的多个方面至关重要.
通过神经发育和功能受损,NANS功能障碍会导致神经发育障碍.

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