Transcriptome analyses of human corneal endothelial cell lines derived from patients with Fuchs endothelial corneal dystrophy.

ABSTRACT: Fuchs Endothelial Corneal Dystrophy (FECD) is an age-related disorder that affects about 4% of the population over the age of 40 years and is genetically associated with CTG repeat expansion in Transcription factor-4 (TCF4) gene. Although both genetic variants as well as environmental exposures like ultraviolent-A light (UVA) have been reported to cause FECD, there are no pharmacological treatments due to the lack of understanding of disease pathogenesis. To characterize the corneal endothelial (CE) cells in FECD individuals with or without CTG repeat expansions in TCF4, we performed RNA-sequencing (RNAseq) of three normal CE cell lines and seven FECD cell lines, including 3 generated from donors with TCF4 repeat expansions (FECD-R) and 4 from non-expanded donors (FECD-NR). Analysis of tra

SUBMITTER: Ashraf S 

PROVIDER: S-EPMC12657521 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature