Fragile x syndrome and autism: From disease model to therapeutic targets

Gül Dölen, Mark F. Bear

Research output: Contribution to journalArticlepeer-review

Abstract

Autism is an umbrella diagnosis with several different etiologies. Fragile X syndrome (FXS), one of the first identified and leading causes of autism, has been modeled in mice using molecular genetic manipulation. These Fmr1 knockout mice have recently been used to identify a new putative therapeutic target, the metabotropic glutamate receptor 5 (mGluR5), for the treatment of FXS. Moreover, mGluR5 signaling cascades interact with a number of synaptic proteins, many of which have been implicated in autism, raising the possibility that therapeutic targets identified for FXS may have efficacy in treating multiple other causes of autism.

Original languageEnglish (US)
Pages (from-to)133-140
Number of pages8
JournalJournal of Neurodevelopmental Disorders
Volume1
Issue number2
DOIs
StatePublished - 2009

Keywords

  • Angelman
  • Audiogenic seizure
  • Autism .HOMER
  • BDNF
  • Cognitive
  • Cortex
  • Dendritic spine
  • Development
  • Dominance
  • Extinction
  • FMRP
  • FXS
  • Fragile X
  • Fragile x mental retardation protein
  • Glutamate
  • Hamartoma
  • Hippocampus
  • Impairment
  • Inhibitory avoidance
  • LTD
  • Long term depression
  • MeCP
  • Mental retardation
  • Metabotropic
  • Mglur
  • Mglur5
  • Neurexin
  • Neuroligin
  • Ocular
  • PTEN
  • Passive avoidance
  • Plasticity
  • Protein synthesis
  • Receptor
  • Rett
  • SHANK
  • Seizure
  • Synapse
  • Synapsopathy
  • Synaptic plasticity
  • TSC
  • TSC1
  • TSC2
  • Translation
  • Tuberous sclerosis
  • UBE3
  • Visual

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cognitive Neuroscience

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