mTOR信号通路异常与癫痫

mTOR signaling pathway abnormality and epilepsy

mTOR(mammalian/mechanistic targets of rapamycin)存在于两个功能性复合体mTORC1和mTORC2中,通过对生长因子、营养物质、谷氨酸、神经递质等应答,调控细胞的重要生理过程。中枢神经系统mTOR通路异常活化可引起癫痫。文中通过回顾国内外研究报道,旨在分析和总结与mTOR通路相关的癫痫表型及可能的致痫机制,为相关癫痫的诊断和治疗新手段提供参考依据。

Mammalian/mechanistic targets of rapamycin(mTOR)consist in two functional complexes,mTORC1 and mTORC2,which modulate the essential physical process in organism through responding to growth factor,glutamine,neurotransmitter and so on.Overaction of mTOR pathway in the central nervous system is responsible for epilepsy.The article reviews the existing reports to analyze and conclude the phenotypes of the mTOR related epilepsies as well as the likely mechanism,and to provide reference for the diagnosis and treatment of mTOR related epilepsy.