Abnormal mTOR Activation in Autism

Annu Rev Neurosci. 2018 Jul 8;41:1-23. doi: 10.1146/annurev-neuro-080317-061747. Epub 2018 Jan 25.

Abstract

The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates environmental information regarding energy availability and stimulates anabolic molecular processes and cell growth. Abnormalities in this pathway have been identified in several syndromes in which autism spectrum disorder (ASD) is highly prevalent. Several studies have investigated mTOR signaling in developmental and neuronal processes that, when dysregulated, could contribute to the development of ASD. Although many potential mechanisms still remain to be fully understood, these associations are of great interest because of the clinical availability of mTOR inhibitors. Clinical trials evaluating the efficacy of mTOR inhibitors to improve neurodevelopmental outcomes have been initiated.

Keywords: PTEN; autism; fragile X; mTOR; rapamycin; tuberous sclerosis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Animals
  • Autistic Disorder / genetics
  • Autistic Disorder / metabolism*
  • Autistic Disorder / pathology
  • Autistic Disorder / physiopathology
  • Humans
  • Signal Transduction / drug effects
  • Signal Transduction / physiology*
  • TOR Serine-Threonine Kinases / genetics
  • TOR Serine-Threonine Kinases / metabolism*

Substances

  • MTOR protein, human
  • TOR Serine-Threonine Kinases