Dynamic Akt/mTOR signaling in children with autism spectrum disorder

Charity Onore, Houa Yang, Judith A Van de Water, Paul Ashwood

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Autism spectrum disorder (ASD) is a behaviorally defined disorder affecting 1 in 68 children. Currently, there is no known cause for the majority of ASD cases nor are there physiological diagnostic tools or biomarkers to aid behavioral diagnosis. Whole-genome linkage studies, genome-wide association studies, copy number variation screening, and SNP analyses have identified several ASD candidate genes, but which vary greatly among individuals and family clusters, suggesting that a variety of genetic mutations may result in a common pathology or alter a common mechanistic pathway. The Akt/mammalian target of rapamycin (mTOR) pathway is involved in many cellular processes including synaptic plasticity and immune function that can alter neurodevelopment. In this study, we examined the activity of the Akt/mTOR pathway in cells isolated from children with ASD and typically developing controls. We observed higher activity of mTOR, extracellular receptor kinase, and p70S6 kinase and lower activity of glycogen synthase kinase 3 (GSK3)a and tuberin (TSC2) in cells from children with ASD. These data suggest a phosphorylation pattern indicative of higher activity in the Akt/mTOR pathway in children with general/idiopathic ASD and may suggest a common pathological pathway of interest for ASD.

Original languageEnglish (US)
Article number43
JournalFrontiers in Pediatrics
Volume5
DOIs
StatePublished - Mar 15 2017

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Sirolimus
Phosphotransferases
Glycogen Synthase Kinase 3
Neuronal Plasticity
Genome-Wide Association Study
Autism Spectrum Disorder
Single Nucleotide Polymorphism
Biomarkers
Phosphorylation
Genome
Pathology
Mutation
Genes

Keywords

  • Autism
  • MTOR
  • Phosphorylation
  • Signaling
  • T cells

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Dynamic Akt/mTOR signaling in children with autism spectrum disorder. / Onore, Charity; Yang, Houa; Van de Water, Judith A; Ashwood, Paul.

In: Frontiers in Pediatrics, Vol. 5, 43, 15.03.2017.

Research output: Contribution to journalArticle

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