A converging-methods approach to fragile X syndrome

James D. Churchill, Aaron W. Grossman, Scott A. Irwin, Roberto Galvez, Anna Y. Klintsova, Ivan Jeanne Weiler, William T. Greenough

Research output: Contribution to journalArticlepeer-review

Abstract

Converging approaches across domains of brain anatomy, cell biology, and behavior indicate that Fragile X syndrome, arising from impaired expression of a single gene and protein, appears to involve an aberration of normal developmental processes. Synapse overproduction and selective elimination, or pruning, characterize normal brain development. In autopsy tissue from Fragile X patients and in a knockout mouse model of the disease, synapse overproduction appears to occur unaccompanied by synapse pruning and maturation, leaving an excess of immature spine synapses in place. The absence of the Fragile X protein seems to impair the synthesis of important proteins at synapses. The developmental outcome in Fragile X is a nervous system that is relatively disorganized, resulting in disrupted perceptual, and cognitive social, behavior.

Original languageEnglish (US)
Pages (from-to)323-338
Number of pages16
JournalDevelopmental psychobiology
Volume40
Issue number3
DOIs
StatePublished - 2002

Keywords

  • Dendrite
  • Development
  • Disorder
  • Electron microscopy
  • Fmr1
  • Fragile X mental retardation protein
  • Golgi
  • Maturation
  • Mental retardation
  • Rat
  • Spine dysgenesis
  • Transgenic mouse

ASJC Scopus subject areas

  • Developmental and Educational Psychology
  • Developmental Neuroscience
  • Developmental Biology
  • Behavioral Neuroscience

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