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Unveiling Endothelial Cell Expression Profiles in FEVR: Identification of Key Genes Associated With Pathological
Huijuan Xu1,2, Yunqi He1,2, Xianjun Zhu1,2
1The Genetic Diseases Key Laboratory of Sichuan Province, The Department of Medical Genetics, The Department of Laboratory Medicine, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Clinical & Experimental Ophthalmology
|October 16, 2025
Summary
A new mouse model for familial exudative vitreoretinopathy (FEVR) reveals key molecular pathways and biomarkers, including CTSS and CCL4, involved in pathological retinal neovascularization.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Familial exudative vitreoretinopathy (FEVR) is a genetic disorder affecting retinal blood vessel development and angiogenesis.
- While FZD4 mutations are known causes, the molecular mechanisms of pathological neovascularization in FEVR are not fully understood.
Purpose of the Study:
- To establish a novel mouse model for FEVR using CRISPR/Cas9 gene editing.
- To investigate the molecular mechanisms and identify biomarkers of pathological neovascularization in FEVR.
Main Methods:
- Generated a Fzd4 missense mutation mouse model (Fzd4M105V) using CRISPR/Cas9.
- Conducted comprehensive vascular phenotyping, including retinal imaging and immunohistochemistry.
- Utilized single-cell RNA sequencing (scRNA-seq) to analyze retinal endothelial cell (EC) expression profiles.
Main Results:
- The Fzd4M105V model exhibited key FEVR features like abnormal retinal vasculature and delayed hyaloid regression.
- ScRNA-seq identified distinct transcriptional profiles in pathological ECs and tip cells, enriched in pathways like focal adhesion, PI3K-Akt, and VEGF signaling.
- Identified and validated CTSS and CCL4 as novel candidate markers upregulated in neovascular lesions.
Conclusions:
- Established a novel FEVR mouse model with a missense mutation, aiding FEVR pathogenesis research.
- Elucidated retinal EC expression profiles and identified key signaling pathways involved in pathological neovascularization.
- Highlighted CTSS and CCL4 as promising biomarkers for FEVR investigation.
