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Synaptic plasticity and signaling in Rett syndrome

Grazia Della Sala1, Tommaso Pizzorusso

  • 1Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, Florence, Italy.

Developmental Neurobiology
|August 3, 2013
PubMed

Insights

Rett syndrome, caused by MeCP2 gene mutations, leads to developmental regression and neurological issues. Research highlights synaptic dysfunction as a key factor in this disorder.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein-2 (MeCP2) gene.
  • Affected children exhibit normal early development followed by regression, characterized by decelerated head growth, stereotyped hand movements, breathing irregularities, and seizures.

Purpose of the Study:

  • To review novel findings on how specific synaptic mechanisms and signaling pathways are affected in Rett syndrome models.
  • To elucidate the pathogenetic mechanisms of RTT converging at the synaptic level.

Main Methods:

  • Analysis of animal models of Rett syndrome with construct and face validity.
  • Review of recent research on synaptic transmission and plasticity in RTT models.

Main Results:

  • Homeostatic regulation of the MeCP2 gene is crucial for normal central nervous system (CNS) functioning.
  • Multiple complex pathways involving neuronal and glial cells are disrupted in RTT models.
  • RTT pathogenesis converges at the synaptic level, impairing synaptic transmission and plasticity.

Conclusions:

  • Synaptic dysfunction is a central mechanism in Rett syndrome.
  • Understanding affected synaptic pathways offers potential therapeutic targets for RTT.

Keywords:
CDKL5DNA methylationMeCP2dendritic spinesynaptic plasticity

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