Functional consequences of mutations in postsynaptic scaffolding proteins and relevance to psychiatric disorders

Annu Rev Neurosci. 2012;35:49-71. doi: 10.1146/annurev-neuro-062111-150442. Epub 2012 Apr 20.

Abstract

Functional studies on postsynaptic scaffolding proteins at excitatory synapses have revealed a plethora of important roles for synaptic structure and function. In addition, a convergence of recent in vivo functional evidence together with human genetics data strongly suggest that mutations in a variety of these postsynaptic scaffolding proteins may contribute to the etiology of diverse human psychiatric disorders such as schizophrenia, autism spectrum disorders, and obsessive-compulsive spectrum disorders. Here we review the most recent evidence for several key postsynaptic scaffolding protein families and explore how mouse genetics and human genetics have intersected to advance our knowledge concerning the contributions of these important players to complex brain function and dysfunction.

Publication types

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

MeSH terms

  • Animals
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / physiology*
  • Humans
  • Mental Disorders / genetics*
  • Mental Disorders / physiopathology*
  • Models, Neurological
  • Mutation / genetics
  • Mutation / physiology
  • Post-Synaptic Density / genetics*
  • Post-Synaptic Density / physiology*

Substances

  • Cytoskeletal Proteins