单细胞转录组测序在眼科相关疾病研究中的应用现状

Application of single-cell RNA sequencing in the study of ophthalmologic diseases

单细胞转录组测序(scRNA-seq)是一种强大且快速发展的新兴技术,与传统RNA-seq技术相比,其使全面剖析细胞异质性和获取从整体分析中无法获得的生物信息成为可能。近年来,该技术已被广泛应用于单个细胞的表征检测和细胞水平的生物学机制研究等领域。目前,在眼科领域中,不断有应用scRNA-seq技术的相关研究报道。单细胞水平的基因表达已经在动物模型、视网膜类器官、初级人类视网膜、视网膜色素上皮和脉络膜的视觉系统中进行了研究。同样,scRNA-seq技术测序研究已经确定了许多眼部疾病背景下基因表达的变化模式,包括脉络膜血管内皮细胞如何在年龄相关性黄斑变性中发生改变、退化的糖尿病小鼠视网膜中不同细胞的功能亚型及近视小鼠巩膜纤维层组织中的各类异质细胞群等。另外,scRNA-seq技术也确定了一些眼部肿瘤的分子、细胞及生理学等特征,包括视网膜母细胞瘤的细胞起源及靶向分子、葡萄膜黑色素瘤的异质性及新的治疗靶点等。本文主要阐述了scRNA-seq技术在眼科相关疾病研究中的最新应用情况,为研究者提供参考,以期扩展该技术到更多的眼部研究中。

Single-cell RNA sequencing(scRNA-seq)is a powerful and rapidly developing emerging technology that allows complete analysis of cellular heterogeneity and provides bioinformation that is not available from holistic analysis compared to traditional bulk RNA sequencing(bulk RNA-seq).In recent years,the technique has been widely used in the characterization and detection of single cells and the study of biological mechanisms at the cellular level.Currently,the application of scRNA-seq in the field of ophthalmology has been reported.Gene expression at the single cell level has been studied in animal models,retinal organoids,primary human retina,retinal pigment epithelium(RPE),and choroidal visual systems.Similarly,scRNA-seq research has identified many ocular diseases under the background of the change of gene expression patterns,including how choroid blood vessel endothelial cell changes in age-related macular degeneration(AMD),the degradation of the function of cells in the retina of diabetic mice subtypes and myopic sclera fiber layer in the organization of various types of heterogeneous cells in mice,and so on.In addition,the scRNA-seq has identified the molecular,cellular and physiological characteristics of several eye tumors,including the cell origin and target molecules of retinoblastoma,the heterogeneity of uveal melanoma,and new therapeutic targets.This article mainly introduces the latest application of scRNA-seq technology in ophthalmology-related diseases to provide a reference for researchers,hoping that the technology can be extended to more related research in ophthalmology.