粉样β前体蛋白代谢物在宏头症和自闭症谱系障碍中的应用
Deborah K Sokol1, Debomoy K Lahiri2,3,4
1Department of Neurology, Section of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, United States.
Frontiers in molecular neuroscience
|October 6, 2023
概括
胺β前体蛋白 (APP) 代谢物升高可能导致自闭症谱系障碍 (ASD) 中的大脑过度生长. 本综述探讨了证据,将APP代谢物与ASD中的大脑和神经发育途径联系起来.
科学领域:
- 神经科学是一个神经科学.
- 发展生物学 发展生物学
- 遗传学 是一个遗传学.
背景情况:
- 自闭症谱系障碍 (ASD) 与大脑症有关.
- 氨基酸β前体蛋白 (APP) 蛋白质分解代谢物涉及神经发育过程.
研究的目的:
- 审查证据,将APP代谢物与ASD中的大脑过度生长联系起来.
- 探索APP代谢物在神经炎症和与ASD相关的信号通路中的作用.
主要方法:
- 审查关于APP代谢,神经炎症和ASD的现有文献.
- 对报告ASD血和脑组织中APP代谢物升高的研究进行分析.
- 检查受APP代谢物影响的分子通路.
主要成果:
- 在患有自闭症儿童中发现总APP,分泌APPα和α-分泌酶阿达马利辛的水平升高.
- 在神经炎症中,APP代谢物被上调,这是ASD大脑过度生长的一个因素.
- APP代谢物影响与综合症ASD相关的翻译信号通路.
结论:
- APP代谢物是ASD中大脑的潜在贡献者.
- APP代谢物可能通过PI3K/Akt/mTOR/Rho GTPase通路驱动ASD大脑过度生长,特别是白质增加.
- 微RNA调节APP表达也可能在ASD相关的大脑过度生长中发挥作用.
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