Abstract
The role of infections in the pathogenesis of autism spectrum disorder (ASD) is still controversial. In this study, we aimed to evaluate markers of infections and immune activation in ASD by performing a meta-analysis of publicly available whole-genome transcriptomic datasets of brain samples from autistic patients and otherwise normal people. Among the differentially expressed genes, no significant enrichment was observed for infectious diseases previously associated with ASD, including herpes simplex virus-1 (HSV-1), cytomegalovirus and Epstein–Barr virus in brain samples, nor was it found in peripheral blood from ASD patients. Interestingly, a significant number of genes belonging to the “prion diseases” pathway were found to be modulated in our ASD brain meta-analysis. Overall, our data do not support an association between infection and ASD. However, the data do provide support for the involvement of pathways related to other neurodegenerative diseases and give input to uncover novel pathogenetic mechanisms underlying ASD.
Highlights
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders defined by significantly abnormal social interaction, impaired communication and language abilities, and a narrow pattern of interests [1]
Five datasets were included in the meta-analysis of brain samples: GSE28521, GSE38322, GSE62098, GSE64018 and GSE102741, while three datasets were used for the meta-analysis of blood samples: GSE6575, GSE42133 and GSE18123
We investigated the relationship between infections and autism, proving that they should not be considered as etiological factors but probably as co-factors
Summary
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders defined by significantly abnormal social interaction, impaired communication and language abilities, and a narrow pattern of interests [1]. Infections have been suggested as a potential trigger of the disease [4,5,6].
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