Heterozygous Tcf4 Deficiency Mitigates Fuchs Endothelial Corneal Dystrophy Progression in a Mouse Model.

ABSTRACT:

Purpose

The purpose of this study was to use Col8a2Q455K/Q455K mice, an established Fuchs endothelial corneal dystrophy (FECD) model, to investigate whether heterozygous knockout of Tcf4 expression could ameliorate the progression of FECD.

Methods

Tcf4 heterozygous knockout mice were generated using CRISPR/Cas9-mediated deletion of exons 2 and 3. These mice were crossed with Col8a2Q455K/Q455K mice to obtain Col8a2Q455K/Q455K/Tcf4± mice. Differential gene expression profiles in corneal endothelial cells of Col8a2Q455K/Q455K/Tcf4± and Col8a2Q455K/Q455K mice were then examined using RNA sequencing. Guttae formation and corneal endothelial cell density were assessed using contact specular microscopy. Expression of extracellular matrix (ECM) components was evaluated by qPCR and i

SUBMITTER: Ito S 

PROVIDER: S-EPMC11984510 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature