Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome

Carla Lintas, Roberto Sacco, Antonio M. Persico

Research output: Contribution to journalArticlepeer-review


Though different in their aetiology, autism spectrum disorder (ASD), Rett syndrome (RTT) and Down syndrome (DS) are three neurodevelopmental disorders sharing significant clinical and neuropathological overlaps. Genome-wide expression studies are reviewed and available datasets from post-mortem brains reanalyzed to identify genes and gene pathways dysregulated in all three disorders. Our results surprisingly converge upon immune, and not neurodevelopmental genes, as the most consistently shared abnormality in genome-wide expression patterns. A dysregulated immune response, accompanied by enhanced oxidative stress and abnormal mitochondrial metabolism seemingly represents the common molecular underpinning of these neurodevelopmental disorders. This conclusion may be important for the definition of pharmacological therapies able to ameliorate clinical symptoms across these disorders.

Original languageEnglish
Pages (from-to)57-68
Number of pages12
JournalNeurobiology of Disease
Issue number1
Publication statusPublished - Jan 2012


  • Asperger syndrome
  • Autism
  • Autism spectrum disorder
  • Autistic disorder
  • Down syndrome
  • Expression
  • Immune response
  • Mental retardation
  • Microarray
  • Neurodevelopment
  • Neuroinflammation
  • Pervasive developmental disorders
  • Rett syndrome

ASJC Scopus subject areas

  • Neurology


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