title: Brain transcriptional and epigenetic associations with autism.
abstract: BACKGROUND
  Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most cases are idiopathic.
  
  
  RESULTS
  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 whole genome 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.
  
  
  CONCLUSIONS
  This work highlights two largely unrecognized molecular pathophysiological themes in autism and suggests differing molecular bases for autism behavioral endophenotypes.
authors.affiliation: Cleveland Clinic Lerner College of Medicine, Cleveland, Ohio, United States of America.
authors.forename: Matthew R
authors.initials: MR
authors.lastname: Ginsberg
authors.forename: Robert A
authors.initials: RA
authors.lastname: Rubin
authors.forename: Tatiana
authors.initials: T
authors.lastname: Falcone
authors.forename: Angela H
authors.initials: AH
authors.lastname: Ting
authors.forename: Marvin R
authors.initials: MR
authors.lastname: Natowicz
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D005600:Fragile X Syndrome / Q000235:genetics; D018628:Gene Dosage; D005786:Gene Expression Regulation; D006801:Humans; D007223:Infant; D007249:Inflammation; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism; D015233:Models, Statistical; D009186:Myelin Sheath / Q000378:metabolism; D020411:Oligonucleotide Array Sequence Analysis; D010085:Oxidative Phosphorylation; D010641:Phenotype; D014176:Protein Biosynthesis; D017422:Sequence Analysis, DNA; D015398:Signal Transduction; D014158:Transcription, Genetic