Cellular and synaptic network defects in autism

Curr Opin Neurobiol. 2012 Oct;22(5):866-72. doi: 10.1016/j.conb.2012.02.015. Epub 2012 Mar 20.


Many candidate genes are now thought to confer susceptibility to autism spectrum disorders (ASDs). Here we review four interrelated complexes, each composed of multiple families of genes that functionally coalesce on common cellular pathways. We illustrate a common thread in the organization of glutamatergic synapses and suggest a link between genes involved in Tuberous Sclerosis Complex, Fragile X syndrome, Angelman syndrome and several synaptic ASD candidate genes. When viewed in this context, progress in deciphering the molecular architecture of cellular protein-protein interactions together with the unraveling of synaptic dysfunction in neural networks may prove pivotal to advancing our understanding of ASDs.

Publication types

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

MeSH terms

  • Autistic Disorder / pathology*
  • Brain / pathology*
  • Humans
  • Nerve Net / pathology*
  • Synapses / pathology*