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儿科自身免疫性神经精神和 MIA 相关自闭症谱系障碍中异常的 mTOR 活性。

Abnormal mTOR Activity in Pediatric Autoimmune Neuropsychiatric and MIA-Associated Autism Spectrum Disorders.

机构信息

Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.

Natural Science Faculty, Novosibirsk National Research State University, 630090 Novosibirsk, Russia.

出版信息

Int J Mol Sci. 2022 Jan 16;23(2):967. doi: 10.3390/ijms23020967.

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by the early onset of communication and behavioral problems. ASD is highly heritable; however, environmental factors also play a considerable role in this disorder. A significant part of both syndromic and idiopathic autism cases could be attributed to disorders caused by mammalian target of rapamycin (mTOR)-dependent translation deregulation. This narrative review analyzes both bioinformatic and experimental evidence that connects mTOR signaling to the maternal autoantibody-related (MAR) autism spectrum and autoimmune neuropsychiatric disorders simultaneously. In addition, we reconstruct a network presenting the interactions between the mTOR signaling and eight MAR ASD genes coding for ASD-specific maternal autoantibody target proteins. The research discussed in this review demonstrates novel perspectives and validates the need for a subtyping of ASD on the grounds of pathogenic mechanisms. The utter necessity of designing ELISA-based test panels to identify all antibodies related to autism-like behavior is also considered.

摘要

自闭症谱系障碍(ASD)是一种神经发育障碍,其特征为早期出现沟通和行为问题。ASD 的遗传性很强;然而,环境因素在这种疾病中也起着相当大的作用。综合征和特发性自闭症病例的很大一部分可以归因于哺乳动物雷帕霉素靶蛋白(mTOR)依赖性翻译失调引起的疾病。这篇叙述性综述分析了连接 mTOR 信号与与母体自身抗体相关(MAR)自闭症谱系和自身免疫性神经精神疾病的生物信息学和实验证据。此外,我们构建了一个网络,展示了 mTOR 信号与编码自闭症特异性母体自身抗体靶蛋白的八个 MAR ASD 基因之间的相互作用。本综述中讨论的研究展示了新的视角,并证实了根据发病机制对 ASD 进行亚型划分的必要性。还考虑了设计基于 ELISA 的测试面板来识别所有与自闭症样行为相关的抗体的绝对必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/856b/8781199/be94a986ca2a/ijms-23-00967-g001.jpg

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