Identification of Peripheral Blood mIR-128-3p Molecular Signature in Children with Autism Spectrum Disorder.
Аннотация
MicroRNAs (miRNAs) are key post-transcriptional regulators of gene expression. Given the dynamic nature of the peripheral blood transcriptome, profiling circulating miRNAs in autism spectrum disorder (ASD) represents a promising strategy for identifying novel disease-associated biomarkers. Large-scale miRNA expression profiling was performed using the μParaflo™ miRNA microarray assay on pooled RNA samples from 23 individuals with ASD and 21 healthy controls. Differential expression analysis (p < 0.05) identified several dysregulated miRNAs in peripheral blood, including miR-128-3p. Microarray findings for miR-128-3p were validated by quantitative reverse transcription PCR (qRT-PCR), which confirmed its significant downregulation in the ASD group. Target gene analysis using miRWalk indicated that miR-128-3p exerts multilevel regulatory effects across diverse biological processes. Notably, predicted and validated targets included genes involved in neuronal development (e.g., PTEN) and epigenetic regulation (e.g., DNMT1, RNASEN, DICER, and EIF2C2). Receiver operating characteristic (ROC) curve analysis demonstrated significant diagnostic potential of miR-128-3p for ASD. Collectively, these findings support an integrative model of ASD as a heterogeneous neurodevelopmental disorder in which specific miRNAs, such as miR-128-3p, contribute to disease pathogenesis through modulation of gene expression networks.
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