Molecular function predictions and diagnostic value analysis of plasma exosomal miRNAs in Hirschsprung's disease

Aim: To discover the potential roles of plasma exosomal miRNAs in Hirschsprung's disease (HSCR) and identify potential noninvasive biomarkers for early diagnosis of HSCR. Materials & methods: Plasma samples were collected from HSCR patients and matched controls. Exosomes were isolated before high-throughput Illumina sequencing was utilized to gain a profile of dysregulated exosomal miRNAs, followed with further verification in two separate cohorts. Bioinformatics analyses were also adopted to explore the molecular functions of dysregulated miRNAs in Hirschsprung's disease. Results & conclusion: 31 dysregulated miRNAs were identified with five considered as promising HSCR signatures. Gene enrichment analysis disclosed that the upregulated miRNAs were most likely to participate in 'extracellular matrix-receptor interaction' and contribute to HSCR through interfering in cell junctions.