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Abstract
Autism is a considerably heritable brain disorder characterized by three main endophenotypes: communication impairments, social withdrawal, and repetition of stereotypical behaviors. The origin of autism is manifold, where epigenetics overlaps with the shared gene-environment etiologies through many pathways such as oxidative stress. So, the evaluation of oxidative stress profile in autism helps to decipher the possible mechanisms underlying the disorder; it can also provide putative diagnostic markers for early detection of autism. In this study, we used qRT-PCR array to analyze the transcriptional profile of 84 genes involved in the oxidative stress pathway in the PBMCs of 80 autistic (25 severe and 55 mild/moderate autism) and 80 age-matched neurotypical children. The initial and validation qRT-PCR assays filtered the 84 genes to 8 genes only that showed differential expression as follows: GCLM, SOD2, NCF2, PRNP, PTGS2, and FTH1 transcripts were downregulated (1.4, 2.1, 1.3, 1.7, 2.2, and 1.3 folds; respectively, p<0.05 for all) and GPX7 was upregulated (1.5 folds, p=0.002) in the autistic group relative to controls. While only PBMCs of severe autistic cases showed significant downregulation of TXN gene when compared to controls (p=0.04). We noticed that FTH1 gene exhibited a highly significant downregulation in severe autistic patients when compared to mild/moderate group (p=0.01) or control group (p=0.0001), which presents a possible biomarker for severity of autism, and suggests a probable role of ferritin heavy chains associated with severity of autistic symptoms