Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice

Mol Psychiatry. 2004 Apr;9(4):417-25. doi: 10.1038/sj.mp.4001432.

Abstract

Fragile X syndrome (FXS) is the most common single gene (FMR1) disorder affecting cognitive and behavioral function in humans. This syndrome is characterized by a cluster of abnormalities including lower IQ, attention deficits, impairments in adaptive behavior and increased incidence of autism. Here, we show that young males with FXS have profound deficits in prepulse inhibition (PPI), a basic marker of sensorimotor gating that has been extensively studied in rodents. Importantly, the magnitude of the PPI impairments in the fragile X children predicted the severity of their IQ, attention, adaptive behavior and autistic phenotypes. Additionally, these measures were highly correlated with each other, suggesting that a shared mechanism underlies this complex phenotypic cluster. Studies in Fmr1-knockout mice also revealed sensorimotor gating and learning abnormalities. However, PPI and learning were enhanced rather than reduced in the mutants. Therefore, these data show that mutations of the FMR1 gene impact equivalent processes in both humans and mice. However, since these phenotypic changes are opposite in direction, they also suggest that murine compensatory mechanisms following loss of FMR1 function differ from those in humans.

Publication types

  • Clinical Trial
  • Controlled Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acoustic Stimulation
  • Adolescent
  • Analysis of Variance
  • Animals
  • Child
  • Child Behavior Disorders / genetics*
  • Child Development Disorders, Pervasive / genetics*
  • Cognition Disorders / genetics*
  • Conditioning, Psychological / physiology
  • Disease Models, Animal
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / physiopathology*
  • Humans
  • Ion Channel Gating / genetics*
  • Ion Channel Gating / physiology
  • Male
  • Mental Disorders / genetics
  • Mice
  • Mice, Knockout
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology
  • Neural Inhibition / genetics*
  • Neural Inhibition / physiology
  • Neuropsychological Tests
  • Predictive Value of Tests
  • RNA-Binding Proteins / genetics
  • RNA-Binding Proteins / physiology
  • Reflex, Startle / genetics
  • Severity of Illness Index

Substances

  • FMR1 protein, human
  • Fmr1 protein, mouse
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein