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Related Experiment Video

Updated: Oct 15, 2025

Optimized Analysis of DNA Methylation and Gene Expression from Small, Anatomically-defined Areas of the Brain
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Epigenetic priming in neurodevelopmental disorders.

Carl Ernst1, Malvin Jefri1

  • 1Department of Neurology and Neurosurgery, Integrated Program in Neuroscience, McGill University, Montreal, QC, Canada.

Trends in Molecular Medicine
|October 25, 2021
PubMed
Summary
This summary is machine-generated.

Neurodevelopmental disorders (NDDs) may stem from faulty epigenetic priming, a crucial genome preparation step. Our findings suggest impaired priming hinders neural development, offering new insights into NDD causes and treatments.

Keywords:
Kabuki syndromeepigenetic priminghistone modificationsneurodevelopmental disorders

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Area of Science:

  • Genetics
  • Neuroscience
  • Epigenetics

Background:

  • Neurodevelopmental disorders (NDDs) affect approximately 1% of the population.
  • Mutations in genes regulating the epigenetic code are implicated in NDDs.
  • The functional roles of many epigenetic modifiers in NDDs remain unclear.

Purpose of the Study:

  • To investigate the role of epigenetic priming in neurodevelopmental disorders.
  • To explore how deficits in epigenetic priming may contribute to NDD pathogenesis.
  • To provide a framework for understanding and potentially treating NDDs.

Main Methods:

  • Utilized high-resolution epigenetic mapping studies.
  • Employed transcriptomic mapping studies.
  • Analyzed genome alterations in preparation for neural induction.

Main Results:

  • Demonstrated how inadequate epigenetic priming impairs the genome's preparation for neural induction.
  • Linked failures in epigenetic priming to deficits in terminally differentiated cells.
  • Provided evidence for impaired epigenetic priming as a contributor to NDDs.

Conclusions:

  • Epigenetic priming deficits contribute to the pathogenesis of neurodevelopmental disorders.
  • Understanding epigenetic priming offers a new framework for NDD research.
  • This framework may guide future therapeutic strategies for NDDs.