Molecules, Vol. 28, Pages 1889: mTOR Signaling Disruption and Its Association with the Development of Autism Spectrum Disorder

Molecules, Vol. 28, Pages 1889: mTOR Signaling Disruption and Its Association with the Development of Autism Spectrum Disorder Molecules doi: 10.3390/molecules28041889 Authors: Shilu Deepa Thomas Niraj Kumar Jha Shreesh Ojha Bassem Sadek Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by impairments in social interaction and communication along with repetitive stereotypic behaviors. Currently, there are no specific biomarkers for diagnostic screening or treatments available for autistic patients. Numerous genetic disorders are associated with high prevalence of ASD, including tuberous sclerosis complex, phosphatase and tensin homolog, and fragile X syndrome. Preclinical investigations in animal models of these diseases have revealed irregularities in the PI3K/Akt/mTOR signaling pathway as well as ASD-related behavioral defects. Reversal of the downstream molecular irregularities, associated with mTOR hyperactivation, improved the behavioral deficits observed in the preclinical investigations. Plant bioactive molecules have shown beneficial pre-clinical evidence in ASD treatment by modulating the PI3K/Akt/mTOR pathway. In this review, we summarize the involvement of the PI3K/Akt/mTOR pathway as well as the genetic alterations of the pathway components and its critical impact on the development of the autism spectrum disorder. Mutations in negative regulators of mTORC1, such as TSC1, TSC2, and PTEN, result in ASD-like phenotyp...
Source: Molecules - Category: Chemistry Authors: Tags: Review Source Type: research