Synaptic dysfunction and intellectual disability

Adv Exp Med Biol. 2012:970:433-49. doi: 10.1007/978-3-7091-0932-8_19.

Abstract

Intellectual disability (ID) is a common and highly heterogeneous paediatric disorder with a very severe social impact. Intellectual disability can be caused by environmental and/or genetic factors. Although in the last two decades a number of genes have been discovered whose mutations cause mental retardation, we are still far from identifying the impact of these mutations on brain functions. Many of the genes mutated in ID code for several proteins with a variety of functions: chromatin remodelling, pre-/post-synaptic activity, and intracellular trafficking. The prevailing hypothesis suggests that the ID phenotype could emerge from abnormal cellular processing leading to pre- and/or post-synaptic dysfunction. In this chapter, we focus on the role of small GTPases and adhesion molecules, and we discuss the mechanisms through which they lead to synaptic network dysfunction.

Publication types

  • Review

MeSH terms

  • Animals
  • Cell Adhesion Molecules / genetics*
  • Cell Adhesion Molecules / metabolism
  • Child
  • Gene Expression Regulation*
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / metabolism
  • Mice
  • Monomeric GTP-Binding Proteins / genetics*
  • Monomeric GTP-Binding Proteins / metabolism
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Phenotype
  • Protein Binding
  • Protein Interaction Mapping
  • Protein Transport / genetics
  • Receptors, Cell Surface / genetics
  • Receptors, Cell Surface / metabolism
  • Synapses / genetics
  • Synapses / metabolism*
  • Synaptic Transmission / genetics*

Substances

  • Cell Adhesion Molecules
  • Nerve Tissue Proteins
  • Receptors, Cell Surface
  • Monomeric GTP-Binding Proteins