X-linked mental retardation: focus on synaptic function and plasticity

J Neurochem. 2009 Apr;109(1):1-14. doi: 10.1111/j.1471-4159.2009.05881.x. Epub 2009 Jan 13.


Among mental disorders, mental retardation has been shown to be caused by various factors including a large array of genetic mutations. On the basis of remarkable progress, the emerging view is that defects in the regulation of synaptic activity and morphogenesis of dendritic spines are apparently common features associated with mutations in several genes implicated in mental retardation. In this review, we will discuss X-linked MR-related gene products that are potentially involved in the normal structure and function of the synapses, with a particular focus on pre- and/or post-synaptic plasticity mechanisms. Progress in understanding the underlying conditions leading to mental retardation will undoubtedly be gained from a closer collaboration of geneticists, physiologists and cognitive neuroscientists, which should enable the establishment of standardized approaches.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Dendritic Spines / genetics
  • Dendritic Spines / metabolism
  • Humans
  • Mental Retardation, X-Linked / genetics*
  • Mental Retardation, X-Linked / metabolism*
  • Mental Retardation, X-Linked / physiopathology
  • Mutation / genetics
  • Neuronal Plasticity* / genetics
  • Phenotype
  • Synapses / genetics
  • Synapses / metabolism*