Abstract
BACKGROUND: MicroRNAs (miRNAs) are crucial regulators of gene expression, impacting a wide range of biological processes. Their dysregulation can result in pathological changes and contribute to the development of various disorders. This study aims to evaluate the expression of selected miRNAs in duodenal tissue of paediatric patients with active celiac disease (CD), investigate the role of dysregulated miRNAs in disease pathogenesis and assess the changes in their expression profile in response to a gluten-free diet (GFD). METHODS AND RESULTS: The study included newly diagnosed celiac patients (n = 20), celiac patients adhering to a GFD (n = 17) and a control group (n = 29). The miRNA expression in duodenal samples was quantified by real-time PCR. Dysregulated miRNAs were analysed for functional enrichment in molecular pathways. Our results identified 8 dysregulated miRNAs in celiac patients: miR-155-5p (upregulated) and hsa-miR-22-5p, hsa-miR-192-5p, hsa-miR-338-3p, hsa-miR-31-5p, hsa-miR-31-3p, hsa-miR-215-5p and hsa-miR-378d (downregulated). Pathway analysis implicated these miRNAs in regulating various signaling pathways related to inflammation, immune response and intercellular junctions, all of which are relevant to the pathogenesis of CD. Moreover, miR-31-3p was upregulated in CD patients on a GFD, exhibiting a negative correlation with the duration of GFD. For other miRNAs, the level of expression in CD patients adhering to a GFD was restored to levels similar to those observed in the control group. CONCLUSION: This preliminary study reveals significant changes in miRNA expression in duodenal biopsies from paediatric CD patients and how these patterns shift with dietary intervention. Understanding the interactions among dysregulated miRNAs may lead to novel therapeutic strategies for managing CD.