RNA sequencing and bioinformatics analysis of human lens epithelial cells in age-related cataract

Abstract

Background Age-related cataract (ARC) is the main cause of blindness in older individuals but its specific pathogenic mechanism is unclear. This study aimed to identify differentially expressed genes (DEGs) associated with ARC and to improve our understanding of the disease mechanism. Methods Anterior capsule samples of the human lens were collected from ARC patients and healthy controls and used for RNA sequencing to detect DEGs. Identified DEGs underwent bioinformatics analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses. Subsequently, reverse transcription quantitative RT-qPCR was used to validate the different expression levels of selected genes. Results A total of 698 up-regulated DEGs and 414 down-regulated DEGs were identified in ARC patients compared with controls by transcriptome analysis. Through GO and KEGG bioinformatics analysis, the functions of significantly DEGs and their possible molecular mechanisms were determined. Sequencing results were verified by RT-qPCR as being accurate and reliable. Conclusions This study identified several genes associated with ARC, which improves our knowledge of the disease mechanism.

Candidate genes identification and RNA-seq based pathway analysis associated with primary angle-closure glaucoma with cataract

“…The blood and surface viscoelastic agents were then washed with sterile saline, and the cleaned samples were placed in EP sterilization tubes. We used the RNA extraction method reported by Wang Z et al [ 13 ]. Briefly, five samples from the same cohort were randomly mixed, placed in ice boxes, and stored at − 80 °C until analysis.…”

Vitamin K and the Visual System: A Narrative Review

“…2, shows PK inhibition of STZ-induced diabetic-cataracts in Group III from Sai Varsha et al 2014 [118]. The human lens is the only transparent, avascular, and nerveless organ in the body [119], and Ca ++ ion concentrations, which are 10,000-fold reduced across the lens plasma membrane compared to the surrounding aqueous humor, have long been known to be a key factor in lens physiology and pathophysiology, largely serving as secondary messengers to regulate numerous essential cellular processes [120]. Receptor tyrosine kinases (RTK), and G-protein-coupled receptors are the cell plasma membrane receptors that detect extracellular signals and modulate free Ca ++ , thus controlling cell processes such as gene expression, cell proliferation, apoptosis, and cell death [120].…”

Single-cell sequencing: promises and challenges for human genetics

“…[ 32 ], [ 33 ], [ 34 ], [ 35 ], [ 36 ]. Sc-seq has also been used to characterize complex genetic diseases [ 37 ] such as heart diseases [ 38 ], Diamond–Blackfan anemia [ 39 ], and autism [ 40 ]; auto-immune conditions such as lupus [ 41 ], multiple sclerosis [ 42 ], and rheumatoid arthritis [ 43 ]; respiratory illnesses such as asthma [ 44 ], [ 45 ], [ 46 ]; and tissue degenerative conditions such as aging [ 47 ], [ 48 ], age-related ocular diseases [ 49 ], [ 50 ], [ 51 ], Alzheimer’s disease [ 52 ], [ 53 ], Parkinson’s disease [ 54 ], [ 55 ], [ 56 ], and ALS [ 57 ]. These efforts have also resulted in publicly accessible databases similar to wild-type cell atlases, providing an easy portal to query the expression patterns of genes of interest (e. g., scREAD for Alzheimer’s disease [ 52 ]).…”