Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

Michela Fagiolini, Annarita Patrizi, Jocelyn LeBlanc, Lee Way Jin, Izumi Maezawa, Sarah Sinnett, Steven J. Gray, Sophie Molholm, John J. Foxe, Michael V. Johnston, Sakkubai Naidu, Mary Blue, Ahamed Hossain, Shilpa Kadam, Xinyu Zhao, Quiang Chang, Zhaolan Zhou, Huda Zoghbi

Research output: Contribution to journalReview article

1 Scopus citations

Abstract

Disruptions in the gene encoding methyl-CpG binding protein 2 (MECP2) underlie complex neurodevelopmental disorders including Rett Syndrome (RTT), MECP2 duplication disorder, intellectual disabilities, and autism. Significant progress has been made on the molecular and cellular basis of MECP2-related disorders providing a new framework for understanding how altered epigenetic landscape can derail the formation and refinement of neuronal circuits in early postnatal life and proper neurological function. This review will summarize selected major findings from the past years and particularly highlight the integrated and multidisciplinary work done at eight NIH-funded Intellectual and Developmental Disabilities Research Centers (IDDRC) across the US. Finally, we will outline a path forward with identification of reliable biomarkers and outcome measures, longitudinal preclinical and clinical studies, reproducibility of results across centers as a synergistic effort to decode and treat the pathogenesis of the complex MeCP2 disorders.

Original languageEnglish (US)
Pages (from-to)190-206
Number of pages17
JournalNeuroscience
Volume445
DOIs
StatePublished - Oct 1 2020

Keywords

  • animal models
  • biomarkers
  • neurodevelopmental disorders
  • signaling pathways
  • translational

ASJC Scopus subject areas

  • Neuroscience(all)

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    Fagiolini, M., Patrizi, A., LeBlanc, J., Jin, L. W., Maezawa, I., Sinnett, S., Gray, S. J., Molholm, S., Foxe, J. J., Johnston, M. V., Naidu, S., Blue, M., Hossain, A., Kadam, S., Zhao, X., Chang, Q., Zhou, Z., & Zoghbi, H. (2020). Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders. Neuroscience, 445, 190-206. https://doi.org/10.1016/j.neuroscience.2020.04.037