Comprehensive identification of dysregulated extracellular matrix molecules in the corneal endothelium of patients with Fuchs endothelial corneal dystrophy.

ABSTRACT: Fuchs endothelial corneal dystrophy (FECD) is a bilateral, progressive corneal endothelial disease characterized by the formation of extracellular matrix (ECM) excrescences called guttae. This study integrated proteomic and transcriptomic analyses to elucidate the molecular composition and spatial organization of ECM proteins in the Descemet membrane (DM) of FECD patients. Through shotgun proteomics of FECD-derived DM specimens and RNA sequencing data from FECD (n = 10) and control (n = 7) corneal endothelial cells, we identified 19 significantly upregulated molecules in FECD, including 13 ECM-related proteins. Gene Ontology and Reactome analyses revealed ECM-related pathways as central to FECD pathology. Immunofluorescence analyses of flat-mounted and cross-sectional specimens from FECD p

SUBMITTER: Inagaki S 

PROVIDER: S-EPMC12033345 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature