Proinflammatory gene and protein expression alterations in human limbal aniridia fibroblasts.

ABSTRACT: Aniridia-associated keratopathy (AAK) results from the paired box 6 (PAX6) gene haploinsufficiency, leading to depletion of limbal epithelial stem cells, persistent inflammation and a gradual loss of vision. Although fibroblasts are acknowledged as sentinel cells initiating corneal inflammation, their contribution in the chronic inflammatory state of AAK remains unexplored. Our study aims to compare PAX6 and inflammatory cytokine expression in limbal fibroblast cells (LFCs) of corneal donors and aniridia patients (AN-LFCs). Furthermore, we subjected LFCs and AN-LFCs to LPS and cobalt chloride (CoCl2), to investigate specific inflammatory reactions. Following isolation and culture, primary LFCs (n = 7) and AN-LFCs (n = 7) were subjected to a 24-hour treatment with E. coli LPS or a 48-hour e

SUBMITTER: Zimmermann JSA 

PROVIDER: S-EPMC12677563 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature