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

Neurobiology of Disease

卷:45

Roberto Sacco¹  Carla Lintas²  Antonio M. Persico² 

[1] Department of Experimental Neurosciences, I.R.C.C.S. “Fondazione Santa Lucia”, Rome, Italy;

[2] Laboratory of Molecular Psychiatry and Neurogenetics, University “Campus Bio-Medico”, Rome, Italy;

关键词: Asperger syndrome;    Autism;    Autism spectrum disorder;    Autistic disorder;    Down syndrome;    Expression;   

DOI  :  

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown