Abstract
BACKGROUND: Autism spectrum disorder (ASD), is a neurodevelopmental disorder that is known to have a high degree of heritability. Diagnosis of ASD is difficult because of the high heterogeneity of the clinical symptoms. MicroRNAs (miRNAs) can potentially be diagnostic biomarkers for ASD, and several studies have shown the relationship between miRNAs and ASD pathogenesis. In this study, we investigated ten miRNA and mRNA expression of target genes in peripheral blood to explore a diagnostic biomarker for ASD. METHODS: We recruited control and ASD subjects for the discovery cohort (n = 6, each) and replication cohort (n = 20, each). Using qPCR, miRNA and mRNA expression was measured using the SYBR green and probe methods, respectively. In-silico prediction was used for identifying target genes of miRNAs. An in vitro experiment using HEK293 cells was conducted to investigate whether miR-15b-5p modulates the predicted target genes (TGFBR3 and MYBL1). RESULTS: miR-15b-5p expression indicated an increased trend in the discovery cohort (p = 0.052) and a significant upregulation in the replication cohort (p = 0.021). In-silico analysis revealed that miR-15b-5p is relevant to cell development and Wnt signaling. The decreased trends of TGFBR3 and MYBL expression were the same as in previous RNA-seq data. MiR-15b-5p positively regulated TGFBR3 expression in in vitro experiments. CONCLUSIONS: Upregulated miR-15b-5p expression may represent a useful diagnostic marker of ASD subjects, and it may regulate TGFBR3 mRNA expression. These findings indicate a new perspective in the understanding of the pathogenesis of ASD.