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Related Experiment Videos

Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum

Rodney C Samaco1, Raman P Nagarajan, Daniel Braunschweig

  • 1Medical Microbiology and Immunology, Rowe Program in Human Genetics, School of Medicine, University of California, Davis 95616, USA.

Human Molecular Genetics
|January 22, 2004
PubMed
Summary

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Methyl-CpG-binding protein 2 (MeCP2) expression is altered in neurodevelopmental disorders beyond Rett syndrome. These findings suggest defects in MeCP2 regulation contribute to autism spectrum disorders.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Rett syndrome (RTT) is a neurodevelopmental disorder linked to mutations in the MECP2 gene, which encodes methyl-CpG-binding protein 2 (MeCP2).
  • MeCP2 expression is developmentally regulated and varies between neuronal subpopulations (MeCP2(lo) and MeCP2(hi)).
  • Investigating MeCP2 expression defects may reveal insights into RTT, autism, and other neurodevelopmental disorders lacking MECP2 mutations.

Purpose of the Study:

  • To test if pathways regulating MeCP2 expression are impaired in neurodevelopmental disorders.
  • To quantify MeCP2 protein and transcript levels in frontal cortex samples from patients and controls.

Main Methods:

  • High-throughput quantitation of MeCP2 protein and alternatively polyadenylated transcript levels.

Related Experiment Videos

  • Analysis of frontal cortex tissue microarrays from 28 patients with neurodevelopmental disorders and age-matched controls.
  • Laser scanning cytometry for quantitative analysis.

    • Main Results:

    • Normal brain samples show increased MeCP2 expression and MeCP2(hi) cells with age, linked to MECP2 transcription.
    • A decrease in long transcript usage in MeCP2(lo) cells was observed from fetal to postnatal brain.
    • Significant differences in MeCP2 expression were found in autism, Pervasive Developmental Disorder, Prader-Willi, and Angelman syndromes compared to controls.

    Conclusions:

    • Multiple regulatory pathways govern MeCP2's complex developmental expression.
    • Defects in these MeCP2 regulatory pathways are implicated in autism spectrum disorders, in addition to Rett syndrome.