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Rett syndrome and neuronal development.

Michael V Johnston1, Mary E Blue, Sakkubai Naidu

  • 1Department of Neurology, Kennedy Krieger Institute, Baltimore, MD 21205, USA. johnston@kennedykrieger.org

Journal of Child Neurology
|October 18, 2005
PubMed
Summary
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Rett syndrome disrupts neuronal circuits, impacting glutamate and GABA neurotransmission. This genetic disorder affects synapse development, particularly in young females with Rett syndrome.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Rett syndrome is a neurological disorder characterized by disrupted neuronal circuits.
  • Abnormalities in excitatory (glutamate) and inhibitory (GABA) synaptic receptors are observed in affected individuals.
  • The protein MeCP2, implicated in Rett syndrome, plays a role in neuronal development and synapse formation.

Purpose of the Study:

  • To investigate the hypothesis that Rett syndrome is a genetic disorder of synapse development.
  • To explore the role of MeCP2 in regulating neurotransmitter systems involved in Rett syndrome.

Main Methods:

  • Receptor autoradiography on postmortem brain tissue.
  • Analysis of nasal epithelium from Rett syndrome patients.
  • Review of existing literature on MeCP2, brain-derived neurotrophic factor, and Dlx5.

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Main Results:

  • Abnormal densities of glutamate and GABA synaptic receptors were found in postmortem brains of young females with Rett syndrome.
  • Olfactory receptor neuron maturation is impaired in Rett syndrome patients before synapse formation.
  • MeCP2 influences the expression of brain-derived neurotrophic factor (enhancing glutamate neurotransmission) and Dlx5 (stimulating GABA synthesis).

Conclusions:

  • Rett syndrome is strongly supported as a genetic disorder affecting synapse development.
  • The disorder specifically impacts synapses utilizing glutamate and GABA neurotransmitters.
  • MeCP2 dysfunction is central to the synaptic and neurodevelopmental deficits observed in Rett syndrome.