Abnormal mTOR Activity in Pediatric Autoimmune Neuropsychiatric and MIA-Associated Autism Spectrum Disorders |
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Authors: | Ekaterina A. Trifonova Zakhar S. Mustafin Sergey A. Lashin Alex V. Kochetov |
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Affiliation: | 1.Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia; (Z.S.M.); (S.A.L.); (A.V.K.);2.Natural Science Faculty, Novosibirsk National Research State University, 630090 Novosibirsk, Russia |
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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. |
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Keywords: | genetics bioinformatics autism spectrum disorder (ASD) autoimmune disorders (AIDs) mTOR signaling pathway maternal autoantibody-related (MAR) ASD maternal immune activation (MIA) pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) |
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