Abnormal mTOR Signaling Pathway Activity in Autism Spectrum Disorders: Prospects of Mechanism-Based Therapy

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Autism spectrum disorder (ASD) is a developmental disorder characterized by the early onset of communication, learning, and behavioral problems. The syndromic form of ASD is caused by monogenic mutations, in the case when it is not possible to find genetic or other known mechanisms, the term “idiopathic autism” is used. A significant part of both syndromic and idiopathic autism is associated with translational deregulation dependent on the mechanistic target of rapamycin (mTOR). In this review, we present both bioinformatic and experimental data that link the mTOR signaling pathway to maternal autoantibody-induced autism and childhood autoimmune neuropsychiatric disorders such as Sydenham’s chorea and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS). The need for ASD subtyping and the possibility of mechanism-based therapy with inhibitors of the mTOR signaling pathway are also discussed.

作者简介

E. Trifonova

Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences

编辑信件的主要联系方式.
Email: trifonova.k@rambler.ru
Russia, 630090, Novosibirsk

А. Kotliarova

Research Institute of Clinical and Experimental Lymphology – Branch of the Institute of Cytology and Genetics,
Siberian Branch, Russian Academy of Sciences

Email: trifonova.k@rambler.ru
Russia, 630117 , Novosibirsk

A. Kochetov

Institute of Cytology and Genetics, Siberian Branch, Russian Academy of Sciences; Novosibirsk State University

Email: trifonova.k@rambler.ru
Russia, 630090, Novosibirsk; Russia, 630090, Novosibirsk

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