May 6, 2014

Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder

BioRxiv : the Preprint Server for Biology
Esther R. BerkoJohn Greally

Abstract

DNA mutational events are increasingly being identified in autism spectrum disorder (ASD), but the potential additional role of dysregulation of the epigenome in the pathogenesis of the condition remains unclear. The epigenome is of interest as a possible mediator of environmental effects during development, encoding a cellular memory reflected by altered function of progeny cells. Advanced maternal age (AMA) is associated with an increased risk of having a child with ASD for reasons that are not understood. To explore whether AMA involves covert aneuploidy or epigenetic dysregulation leading to ASD in the offspring, we tested an homogeneous ectodermal cell type from 47 individuals with ASD compared with 48 typically developing (TD) controls born to mothers of ≥35 years, using a quantitative genome-wide DNA methylation assay. We show that DNA methylation patterns are dysregulated in ectodermal cells in these individuals, having accounted for confounding effects due to subject age, sex and ancestral haplotype. We did not find mosaic aneuploidy or copy number variability to occur at differentially-methylated regions in these subjects. Of note, the loci with distinctive DNA methylation were found at genes expressed in the brain an...Continue Reading

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Mentioned in this Paper

Embryo
Study
Pathogenic Aspects
DNA Methylation [PE]
Patterns
Pathogenesis
Genome
Genes
Brain
Environment

About this Paper

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