[HTML][HTML] Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism

S Gupta, SE Ellis, FN Ashar, A Moes, JS Bader… - Nature …, 2014 - nature.com
Nature communications, 2014nature.com
Recent studies of genomic variation associated with autism have suggested the existence of
extreme heterogeneity. Large-scale transcriptomics should complement these results to
identify core molecular pathways underlying autism. Here we report results from a large-
scale RNA sequencing effort, utilizing region-matched autism and control brains to identify
neuronal and microglial genes robustly dysregulated in autism cortical brain. Remarkably,
we note that a gene expression module corresponding to M2-activation states in microglia is …
Abstract
Recent studies of genomic variation associated with autism have suggested the existence of extreme heterogeneity. Large-scale transcriptomics should complement these results to identify core molecular pathways underlying autism. Here we report results from a large-scale RNA sequencing effort, utilizing region-matched autism and control brains to identify neuronal and microglial genes robustly dysregulated in autism cortical brain. Remarkably, we note that a gene expression module corresponding to M2-activation states in microglia is negatively correlated with a differentially expressed neuronal module, implicating dysregulated microglial responses in concert with altered neuronal activity-dependent genes in autism brains. These observations provide pathways and candidate genes that highlight the interplay between innate immunity and neuronal activity in the aetiology of autism.
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