Transcriptome Analysis of Corneal Endothelial Cells in Col8a2Q455K/Q455K/Tcf4+/- compared to Col8a2Q455K/Q455K FECD Mouse Model

This study investigated transcriptional changes in corneal endothelial cells with and without Tcf4 heterozygous knockout in Col8a2Q455K/Q455K FECD mouse model. RNA-seq analysis was performed on corneal endothelial cells isolated from Col8a2Q455K/Q455K and Col8a2Q455K/Q455K/Tcf4+/- mice. Principal component analysis and hierarchical clustering demonstrated distinct gene expression patterns between the two groups, identifying 1,053 differentially expressed genes. These genes showed significant changes in pathways related to ion transport and TNF signaling. Overall design: To investigate the effects of Tcf4 heterozygous knockout on corneal endothelial cells in FECD model mice, we examined corneal endothelium from Col8a2Q455K/Q455K mice, an established FECD model, and Col8a2Q455K/Q455K/Tcf4+/- mice, in which Tcf4 was heterozygously knocked out in the FECD model mice. We then performed gene expression profiling analysis using RNA-seq data obtained from corneal endothelial cells of Col8a2Q455K/Q455K (n=3) and Col8a2Q455K/Q455K/Tcf4+/- (n=3) mice. Comparative gene expression profiling analysis of RNA-seq data between Col8a2Q455K/Q455K mice and Col8a2Q455K/Q455K/Tcf4+/- mice revealed distinct transcriptional profiles.