TY - JOUR

T1 - Abnormal mTOR Activity in Pediatric Autoimmune Neuropsychiatric and MIA-Associated Autism Spectrum Disorders

AU - Trifonova, Ekaterina A.

AU - Mustafin, Zakhar S.

AU - Lashin, Sergey A.

AU - Kochetov, Alex V.

N1 - Funding Information: Funding: This research was supported by the Russian State Budgetary Projects FWNR-2022-0006 and FWNR-2022-0020. Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.

PY - 2022/1/16

Y1 - 2022/1/16

N2 - 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.

AB - 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.

KW - Autism spectrum disorder (ASD)

KW - Autoimmune disorders (AIDs)

KW - Bioinformatics

KW - Genetics

KW - Maternal autoantibody-related (MAR) ASD

KW - Maternal immune activation (MIA)

KW - MTOR signaling pathway

KW - Pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS)

UR - http://www.scopus.com/inward/record.url?scp=85122836985&partnerID=8YFLogxK

UR - https://www.mendeley.com/catalogue/348a36e2-03c9-3fd6-8096-e7fabbcc3989/

U2 - 10.3390/ijms23020967

DO - 10.3390/ijms23020967

M3 - Review article

C2 - 35055151

AN - SCOPUS:85122836985

VL - 23

JO - International Journal of Molecular Sciences

JF - International Journal of Molecular Sciences

SN - 1661-6596

IS - 2

M1 - 967

ER -