眼科学报2025，Vol.40Issue(11)：910-919,10.DOI:10.12419/25040102
合并人类免疫缺陷病毒感染患者的白内障和年龄相关性白内障中染色体外环状DNA的总体特征及差异
Characterisation and differences of extrachromosomal circular DNA in cataract patients:a comparison between those with human immunodeficiency virus infection and age-related cataract patients
摘要
Abstract
Objective:To perform full-length sequencing of extrachromosomal circular DNA(eccDNA)in the lens capsule of patients with human immunodeficiency virus(HIV)-infected complicated cataract(CC)and age-related cataract(ARC).The aim is to analyze the molecular characteristics and potential functions of eccDNA and initially investigate the mechanism by which eccDNA contributes to the pathogenesis of cataract related to HIV infection.Methods:Lens capsules were collected from 4 CC patients who were co-infected with HIV and from ARC patients matched for gender and age.The eccDNA was sequenced following a process that included extraction,rolling circle amplification,and circle-seq.We then analyzed and compared the number,length distribution,genomic element distribution,and enrichment of differential gene functions associated with eccDNA in the lens capsules of CC patients co-infected with HIV and ARC patients.Results:The number of eccDNA molecules in the lens capsule of CC patients co-infected with HIV was significantly higher than that in ARC patients,while the GC content was lower..In both CC and ARC patients,the majority of eccDNA lengths felll within the range of 1200 to 1800 bp.However,CC patients exhibited an additional peak between 2000 and 2200 bp,where the abundance of eccDNA in the ARC group was extremely low.Regarding genomic elements derived from eccDNA,the proportion in CC patients was lower than that in the ARC group within CpG islands.The pathways associated with differential gene enrichment of eccDNA in CC patients were primarily related to the calcium signaling pathway,Apelin signaling pathway,and cGMP-PKG signaling pathway.Conclusions:There are notable differences in the molecular characteristics of lens capsule eccDNA between CC patients with HIV infection and ARC patients.These finding suggest that eccDNA may influence the onset and progression of CC by regulating the metabolic functions of the anterior lens capsule through gene expression.关键词
并发性白内障/染色体外环状DNA/人类免疫缺陷病毒/艾滋病/晶状体囊膜Key words
complicated cataract/extrachromosomal circular DNA/HIV/AIDS/lens capsule分类
医药卫生引用本文复制引用
LIU Xinqi,ZHANG Wanqi,WANG Fang,YUAN Chao,YAN Su,JIANG Xianming..合并人类免疫缺陷病毒感染患者的白内障和年龄相关性白内障中染色体外环状DNA的总体特征及差异[J].眼科学报,2025,40(11):910-919,10.基金项目
广东省医学科学技术研究基金项目(A2024526).This work was supported by Guangdong Provincial Medical Science and Technology Research Fund Project(A2024526). （A2024526）
