Transcriptomics Analysis of Lens from Patients with Posterior Subcapsular Congenital Cataract.

Xiaolei Lin,Fan Fan,Tianke Yang,Xiyue Zhou,Yi Luo,Hongzhe Li,Xin Liu

doi:10.3390/genes12121904

Abstract

To gain insight into the aetiology of posterior subcapsular congenital cataract from the perspective of transcriptional changes, we conducted an mRNA sequencing analysis of the lenses in posterior subcapsular congenital cataract patients and in normal children. There were 1533 differentially expressed genes from 19,072 genes in the lens epithelial cells of the posterior subcapsular congenital cataract patients compared to in the normal controls at a cut-off criteria of |log2 fold change| of >1 and a p-value of <0.05, including 847 downregulated genes and 686 upregulated genes. To further narrow down the DEGs, we utilised the stricter criteria of |log2 fold change| of >1 and an FDR value of <0.05, and we identified 551 DEGs, including 97 upregulated genes and 454 downregulated genes. This study also identified 1263 differentially expressed genes of the 18,755 genes in lens cortex and nuclear fibres, including 646 downregulated genes and 617 upregulated genes. The downregulated genes in epithelial cells were significantly enriched in the structural constituent of lenses, lens development and lens fibre cell differentiation. After filtering the DEGs using the databases iSyTE and Cat-Map, several high-priority candidate genes related to posterior subcapsular congenital cataract such as GRIFIN, HTRA1 and DAPL1 were identified. The findings of our study may provide a deeper understanding of the mechanisms of posterior subcapsular congenital cataract and help in the prevention and treatment of this disease.

Highlights

Congenital cataract is the crystalline lens opacification that is present at birth or early childhood [1]
A total of 14 children were included in the study for RNA sequencing (RNA-seq), of which 6 patients had posterior subcapsular congenital cataracts (4 bilateral and 2 unilateral; age: 51–108 months) and 8 normal controls
Using the cut-off criteria of |log2 fold change| of >1 and an false discovery rates (FDRs) value of

Summary

Introduction

Congenital cataract is the crystalline lens opacification that is present at birth or early childhood [1]. It is derived from changes during embryonic development and leads to significant visual impairment [2]. Preventing and treating congenital cataract without delay is paramount in alleviating the sufferings of patients and their families and societies. Previous studies have found that congenital cataracts can be caused by inherited gene mutations or intrauterine diseases, such as infectious, metabolic or drug-induced complications during pregnancy. The prevention and early treatment of these idiopathic congenital cataracts are difficult

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