Related Experiment Video
Updated: May 28, 2026
05:19
Modeling Cataract Surgery in Mice
Published on: December 1, 2023
Lens tissue transcriptome analysis in patients with total congenital cataract
Xiaolei Lin1,2,3,4, Huiyu Chen1,2,3,4, Xin Liu5
1Department of Ophthalmology, Shanghai Eye Diseases Prevention and Treatment Center, Shanghai Eye Hospital, School of Medicine, Tongji University, 1440 Hongqiao Road, Shanghai, 200050, China.
Human Genomics
|May 27, 2026
Summary
Total congenital cataract (TCC) involves distinct gene expression changes in lens cells. This research identifies novel genes potentially involved in childhood visual impairment.
Area of Science:
- Ophthalmology
- Molecular Biology
- Genetics
Background:
- Total congenital cataract (TCC) is a primary cause of visual impairment in children.
- Understanding the molecular mechanisms underlying TCC is crucial for developing effective treatments.
Purpose of the Study:
- To analyze the transcriptome profiles of lens epithelial cells (LECs) and lens fiber cells (LFCs) in pediatric TCC patients.
- To identify differentially expressed genes (DEGs) and explore potential pathogenic pathways contributing to TCC.
Main Methods:
- Transcriptome profiling of LECs and LFCs from pediatric TCC patients.
- Differential gene expression analysis to identify DEGs.
- Pathway enrichment analysis.
- Cross-referencing identified genes with the iSyTE2.0 database.
Main Results:
- 1,645 DEGs were identified in LECs, enriched in extracellular matrix components and organization.
- 2,708 DEGs were identified in LFCs, enriched in protein targeting pathways to the ER and membrane.
- HOPX, SUSD2, SH3BGR, BIRC7, and GSS were highlighted as top candidate genes, all significantly downregulated in both cell types.
Conclusions:
- Distinct transcriptomic profiles exist in LECs and LFCs of TCC patients.
- Novel genes, including HOPX, SUSD2, SH3BGR, BIRC7, and GSS, are implicated in TCC pathogenesis.
- These findings suggest roles for these genes in lens development, oxidative stress, and apoptosis.
