Epigenomics · 2026
miRNA profiling of a mutation-negative PKD cohort reveals PKD1/PKD2 ADPKD shared signatures and differences.
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De Felice Bruna, Nigro Ersilia, Amicone Maria, Pisani Antonio, Daniele Aurora, Farinella Federica
Аннотация
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by mutations in PKD1 or PKD2 genes, but a subgroup of patients has no detectable mutation and remains understudied. We profiled microRNAs (miRNAs) in this mutation-negative group and compared them with PKD1, PKD2, and healthy controls.
METHODS: Targeted miRNA profiling was used to measure miRNAs expression. We tested five prespecified contrasts using Welch's two-sided t-test (p < 0.05). For interpretation, experimentally supported miRNA-mRNA interactions were assembled and visualized into networks.
RESULTS: miR-92a was found upregulated across all patient-control groups. Interestingly, the mutation-negative cohort showed the broadest deregulation, pointing toward higher expression together with enhanced extracellular-matrix remodeling. PKD1 vs controls displayed a more restricted number of deregulated miRNAs; when PKD1 was compared directly with the mutation-negative group, we observed selective reductions, most notably miR-134-5p. PKD2 vs controls showed fewer changes overall but overlapped with the core signature observed in other groups and no miRNAs met the threshold in PKD2 vs mutation-negative.
DISCUSSION: The results indicate that miRNA dysregulation is present in the absence of identifiable PKD1/PKD2 mutations, supporting the idea of common pathways and highlighting the translational potential of miRNAs as biomarkers or therapeutic targets.
METHODS: Targeted miRNA profiling was used to measure miRNAs expression. We tested five prespecified contrasts using Welch's two-sided t-test (p < 0.05). For interpretation, experimentally supported miRNA-mRNA interactions were assembled and visualized into networks.
RESULTS: miR-92a was found upregulated across all patient-control groups. Interestingly, the mutation-negative cohort showed the broadest deregulation, pointing toward higher expression together with enhanced extracellular-matrix remodeling. PKD1 vs controls displayed a more restricted number of deregulated miRNAs; when PKD1 was compared directly with the mutation-negative group, we observed selective reductions, most notably miR-134-5p. PKD2 vs controls showed fewer changes overall but overlapped with the core signature observed in other groups and no miRNAs met the threshold in PKD2 vs mutation-negative.
DISCUSSION: The results indicate that miRNA dysregulation is present in the absence of identifiable PKD1/PKD2 mutations, supporting the idea of common pathways and highlighting the translational potential of miRNAs as biomarkers or therapeutic targets.