Transcriptomic Analysis Reveals Abnormal Expression of Prion Disease Gene Pathway in Brains from Patients with Autism Spectrum Disorders.
Salvo Danilo LombardoGiuseppe BattagliaMaria Cristina PetraliaKatia ManganoMaria Sofia BasileValeria BrunoPaolo FagoneRita BellaFerdinando NicolettiEugenio CavalliPublished in: Brain sciences (2020)
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.
Keyphrases
- autism spectrum disorder
- attention deficit hyperactivity disorder
- intellectual disability
- epstein barr virus
- end stage renal disease
- systematic review
- newly diagnosed
- ejection fraction
- peripheral blood
- white matter
- herpes simplex virus
- chronic kidney disease
- infectious diseases
- genome wide
- resting state
- electronic health record
- peritoneal dialysis
- randomized controlled trial
- dna methylation
- functional connectivity
- big data
- machine learning
- patient reported outcomes
- multiple sclerosis
- brain injury
- meta analyses