Brain transcriptional and epigenetic associations with the autistic phenotype (expression data)

Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic. To uncover important gene dysregulation in autism we analyzed carefully selected idiopathic autistic and control cerebellar and BA19 (occipital) brain tissues using high resolution whole genome gene expression and DNA methylation microarrays. No changes in DNA methylation were identified in autistic brain but gene expression abnormalities in two areas of metabolism were apparent: down-regulation of genes of mitochondrial oxidative phosphorylation and of protein translation. We also found associations between specific behavioral domains of autism and specific brain gene expression modules related to myelin/myelination, inflammation/immune response and purinergic signaling. This work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes. In this set of gene expression data, 8 autism and 8 control cerebellar samples were included, as well as 6 autism and 4 control BA19 samples. Samples are labeled as R, then a number, followed by an optional letter. The number is a variable specific to the subject and brain region. A lower-case a follows technical replicates. A letter X follows biological replicates, which were performed for the two most significant outliers. cer=cerebellum; occ = occipital (BA19). Additional subject data may be obtained from the Autism Tissue Program.