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Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses

Tianshu Yang1, Melissa B Ramocki, Jeffrey L Neul

  • 1Translational Biology and Molecular Medicine Program, Baylor College of Medicine, Houston, TX 77030, USA.

Science Translational Medicine
|December 11, 2012
PubMed

Insights

Methyl-CpG binding protein 2 (MeCP2) overexpression in children causes neurological issues and immune system abnormalities. This study shows overexpressed MeCP2 impairs T helper cell function, potentially leading to immunodeficiency.

Area of Science:

  • Neuroscience
  • Immunology
  • Genetics

Background:

  • Methyl-CpG binding protein 2 (MeCP2) is crucial for neuronal function and gene expression.
  • Overexpression of the MECP2 gene in children leads to neurological syndromes.
  • MECP2 duplication can also cause immunological abnormalities.

Purpose of the Study:

  • To investigate the immunological abnormalities associated with MECP2 duplication.
  • To explore the impact of MeCP2 overexpression on T helper cell function and immune responses.
  • To establish a basis for managing infectious complications in children with MECP2 duplication.

Main Methods:

  • Analysis of immunological parameters in children and mice with MECP2 duplication.
  • Assessment of T helper cell type 1 (T(H)1) and T helper cell type 2 (T(H)2) responses.
  • Chromatin immunoprecipitation assays to evaluate IFN-γ gene locus regulation.

Main Results:

  • Children and mice with MECP2 duplication exhibited reduced T and B cells, natural killer cells, and immunoglobulin responses.
  • MeCP2 overexpression impaired the control of Leishmania major infection and interferon-γ (IFN-γ) secretion in mice.
  • T helper cells from affected individuals showed impaired IFN-γ secretion and T(H)1 responses due to MeCP2-mediated suppression of IFN-γ transcription.

Conclusions:

  • Overexpressed MeCP2 aberrantly suppresses IFN-γ secretion from T helper cells, contributing to a partially immunodeficient state.
  • These findings provide insights into the immunological consequences of MECP2 duplication.
  • The study offers a rationale for identifying, treating, and preventing infections in affected children.

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