TY - JOUR

T1 - Abnormal mTOR Signaling Pathway Activity in Autism Spectrum Disorders: Prospects of Mechanism-Based Therapy

AU - Trifonova, E. A.

AU - Kotliarova, A. A.

AU - Kochetov, A. V.

N1 - The work was supported within the State Task FWNR-2022-0032. Публикация для корректировки.

PY - 2023/4

Y1 - 2023/4

N2 - Autism spectrum disorder (ASD) is a developmental disorder characterized by the early onset of problems with communication, learning, and behavior. The syndromic form of ASD is caused by monogenic mutations. 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 related 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 prospects of mechanism-based therapy with inhibitors of the mTOR signaling pathway are also discussed.

AB - Autism spectrum disorder (ASD) is a developmental disorder characterized by the early onset of problems with communication, learning, and behavior. The syndromic form of ASD is caused by monogenic mutations. 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 related 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 prospects of mechanism-based therapy with inhibitors of the mTOR signaling pathway are also discussed.

KW - PANDAS

KW - Sydenham’s chorea

KW - autism spectrum disorder

KW - bioinformatics

KW - mTOR

KW - maternal immune activation

KW - mechanism-based therapy

UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85156135095&origin=inward&txGid=88a6eab104696427b120e34940ea21ae

UR - https://www.mendeley.com/catalogue/5cd9a014-6913-3717-91ad-cfd6e52489c8/

U2 - 10.1134/S0026893323020206

DO - 10.1134/S0026893323020206

M3 - Article

VL - 57

SP - 235

EP - 244

JO - Molecular Biology

JF - Molecular Biology

SN - 0026-8933

IS - 2

ER -