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Associative DNA methylation changes in children with prenatal alcohol exposure

Benjamin I Laufer1, Joachim Kapalanga2, Christina A Castellani1

  • 1Molecular Genetics Unit, Department of Biology, The University of Western Ontario, London, ON, N6A 5B7, Canada.

Epigenomics
|July 17, 2015
PubMed

Insights

Children with fetal alcohol spectrum disorders (FASD) show unique DNA methylation changes in buccal swabs. These findings in prenatal alcohol exposure (PAE) suggest a potential diagnostic biomarker.

Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Prenatal alcohol exposure (PAE) is a leading cause of birth defects and neurodevelopmental disabilities, collectively known as fetal alcohol spectrum disorders (FASD).
  • Previous research identified PAE-induced epigenetic alterations in mouse models, but human relevance remained unconfirmed.
  • Understanding human-specific epigenetic changes is crucial for diagnosing and managing FASD.

Purpose of the Study:

  • To investigate whether DNA methylation changes observed in mouse models of PAE are also present in human subjects with FASD.
  • To identify specific genes and signaling pathways affected by DNA methylation alterations in children with FASD.
  • To explore the potential of DNA methylation analysis in buccal swabs as a diagnostic tool for FASD.

Main Methods:

  • DNA methylation profiling was performed on buccal swabs from six children diagnosed with FASD using the 450K array.
  • A replication study was conducted on an independent group of six children with FASD to validate the initial findings.
  • Analysis focused on genes involved in protocadherin signaling, glutamatergic synapses, and hippo signaling pathways.

Main Results:

  • Identical DNA methylation changes were observed in the buccal swabs of children with FASD, mirroring findings from animal models.
  • Affected genes are critical for neuronal development and function, including those in protocadherin, glutamatergic synapse, and hippo signaling pathways.
  • The observed DNA methylation defects were consistent across two independent cohorts of children with FASD.

Conclusions:

  • Children with FASD exhibit distinct DNA methylation defects in genes associated with crucial biological pathways.
  • These epigenetic alterations can be influenced by factors such as sex and medication exposure.
  • DNA methylation analysis of buccal swabs presents a promising, non-invasive strategy for the future clinical diagnosis of FASD.
Abstract

Keywords:
CTCFcohesinfetal alcohol spectrum disordersglutamatergic synapsehippo signalingneurodevelopmentprotocadherinsynapse

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