ArticleInvestigative ophthalmology & visual science2025
miRNA Expression Profile in Primary Limbal Epithelial Cells of Aniridia Patients.
Article in Investigative ophthalmology & visual science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Aniridia-associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets.Acta ophthalmologica · 2026Review
- mRNA and microRNA Expression Profile of Corneal and Conjunctival Impression Cytology Samples.Biology · 2026Article
- Integrated Analysis of mRNA and microRNA Expression in Corneal Impression Cytology Samples from Patients withInternational journal of molecular sciences · 2026Article
- Congenital aniridia: European COST action ANIRIDIA-NET guidelines for diagnosis, management and care.Acta ophthalmologica · 2026Review
- Article
- Patient-Derived Immortalized Limbal Epithelial Cells as In Vitro Models of Congenital Aniridia.Cells · 2026Article
- mRNA Sequencing of Limbal Epithelial Cells and mRNA/miRNA Profiling of Limbal Stromal Cells inCells · 2026Article
- PAX6 Deficiency Compromises the Ability of Limbal Epithelial Stem Cells to Properly Differentiate Into Mature Corneal Epithelial Cells.Investigative ophthalmology & visual science · 2026Article
- Decreased PAX6 and DSG1 Protein Expression in Corneal Epithelium of Patients with Epithelial Basal Membrane Dystrophy, Salzmann Nodular Degeneration, and Pterygium.Journal of clinical medicine · 2025Article
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Authors and funding
9 authors.
Funding
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Abstract
Purpose: This study evaluates the microRNA (miRNA) expression profile in primary limbal epithelial cells (pLECs) of patients with aniridia. Methods: Primary human LECs were sampled and isolated from 10 patients with aniridia and 10 healthy donors. The miRNA profile was analyzed using miRNA microarrays. The biological roles of miRNA-validated target genes were delineated in silico by the enrichment analyses of the gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway. The expression of the most deregulated miRNAs was analyzed using quantitative real-time PCR (qRT-PCR). Results: Microarray analysis revealed 10 differentially expressed miRNAs in pLECs of patients with aniridia relative to healthy controls (fold change = ≤ -2 or ≥ +2), nevertheless these were only differentially expressed using an unadjusted P value < 0.05. The qRT-PCR validation confirmed the significantly altered expression of miR-138-5p in pLECs of patients with aniridia (P = 0.005). In silico GO analysis of miR-138-5p target genes revealed the potential biological functions of miR-138-5p in regulating various cellular and molecular processes, including the positive regulation of cell motility, G1/S phase cell cycle transition, and cell migration, as well as the negative role in regulating epithelial cell differentiation. Pathway analysis highlighted the main involvement of the PI3K-Akt, Hippo, Wnt, Focal adhesion, cAMP, p53, IL-17, Jak-STAT, and MAPK-signaling pathways. Conclusions: This study revealed miRNA expression profile in pLECs of patients with aniridia using miRNA microarray and identified miRNAs that had not been previously reported for aniridia LECs. Our study also provides functional and pathway information that can be used to predict possible mechanism of miRNA function in LECs, thereby bridging the gap in the pathogenesis of AAK studies.
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