The role of the postsynaptic density in the pathology of the fragile X syndrome

Results Probl Cell Differ. 2012:54:61-80. doi: 10.1007/978-3-642-21649-7_5.

Abstract

The protein repertoire of excitatory synapses controls dendritic spine morphology, synaptic plasticity and higher brain functions. In brain neurons, the RNA-associated fragile X mental retardation protein (FMRP) binds in vivo to various transcripts encoding key postsynaptic components and may thereby substantially regulate the molecular composition of dendritic spines. In agreement with this notion functional loss of FMRP in patients affected by the fragile X syndrome (FXS) causes cognitive impairment. Here we address our current understanding of the functional role of individual postsynaptic proteins. We discuss how FMRP controls the abundance of select proteins at postsynaptic sites, which signaling pathways regulate the local activity of FMRP at synapses, and how altered levels of postsynaptic proteins may contribute to FXS pathology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Mental Retardation Protein / metabolism
  • Fragile X Syndrome / pathology*
  • Fragile X Syndrome / physiopathology*
  • Gene Expression Regulation
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Post-Synaptic Density / physiology*
  • Post-Synaptic Density / ultrastructure
  • RNA, Messenger / metabolism

Substances

  • Membrane Proteins
  • RNA, Messenger
  • Fragile X Mental Retardation Protein