Shedding light on myopia by studying complete congenital stationary night blindness

IF 18.6 1区 医学 Q1 OPHTHALMOLOGY Progress in Retinal and Eye Research Pub Date : 2023-03-01 DOI:10.1016/j.preteyeres.2022.101155
Christina Zeitz , Jérome E. Roger , Isabelle Audo , Christelle Michiels , Nuria Sánchez-Farías , Juliette Varin , Helen Frederiksen , Baptiste Wilmet , Jacques Callebert , Marie-Laure Gimenez , Nassima Bouzidi , Frederic Blond , Xavier Guilllonneau , Stéphane Fouquet , Thierry Léveillard , Vasily Smirnov , Ajoy Vincent , Elise Héon , José-Alain Sahel , Barbara Kloeckener-Gruissem , Serge Picaud
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Abstract

Myopia is the most common eye disorder, caused by heterogeneous genetic and environmental factors. Rare progressive and stationary inherited retinal disorders are often associated with high myopia. Genes implicated in myopia encode proteins involved in a variety of biological processes including eye morphogenesis, extracellular matrix organization, visual perception, circadian rhythms, and retinal signaling. Differentially expressed genes (DEGs) identified in animal models mimicking myopia are helpful in suggesting candidate genes implicated in human myopia. Complete congenital stationary night blindness (cCSNB) in humans and animal models represents an ON-bipolar cell signal transmission defect and is also associated with high myopia. Thus, it represents also an interesting model to identify myopia-related genes, as well as disease mechanisms. While the origin of night blindness is molecularly well established, further research is needed to elucidate the mechanisms of myopia development in subjects with cCSNB. Using whole transcriptome analysis on three different mouse models of cCSNB (in Gpr179−/−, Lrit3−/− and Grm6−/−), we identified novel actors of the retinal signaling cascade, which are also novel candidate genes for myopia. Meta-analysis of our transcriptomic data with published transcriptomic databases and genome-wide association studies from myopia cases led us to propose new biological/cellular processes/mechanisms potentially at the origin of myopia in cCSNB subjects. The results provide a foundation to guide the development of pharmacological myopia therapies.

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完全性先天性静止性夜盲症对近视的研究
近视是最常见的眼部疾病,由不同的遗传和环境因素引起。罕见的进行性和静止性遗传性视网膜疾病常与高度近视有关。与近视相关的基因编码的蛋白质参与多种生物过程,包括眼形态发生、细胞外基质组织、视觉感知、昼夜节律和视网膜信号。在模拟近视的动物模型中发现的差异表达基因(DEGs)有助于提示与人类近视有关的候选基因。在人类和动物模型中,完全性先天性静止性夜盲症(cCSNB)是一种ON-bipolar细胞信号传递缺陷,也与高度近视有关。因此,它也代表了一个有趣的模型来识别近视相关基因,以及疾病机制。虽然夜盲症的分子起源已经确定,但需要进一步的研究来阐明cCSNB受试者近视发展的机制。通过对三种不同的cCSNB小鼠模型(Gpr179−/−,Lrit3−/−和Grm6−/−)的全转录组分析,我们发现了视网膜信号级联的新参与者,它们也是近视的新候选基因。将转录组数据与已发表的转录组数据库和来自近视病例的全基因组关联研究进行荟萃分析,使我们提出了cCSNB受试者中潜在的近视起源的新的生物学/细胞过程/机制。研究结果为指导近视药物治疗的发展提供了基础。
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来源期刊
CiteScore
34.10
自引率
5.10%
发文量
78
期刊介绍: Progress in Retinal and Eye Research is a Reviews-only journal. By invitation, leading experts write on basic and clinical aspects of the eye in a style appealing to molecular biologists, neuroscientists and physiologists, as well as to vision researchers and ophthalmologists. The journal covers all aspects of eye research, including topics pertaining to the retina and pigment epithelial layer, cornea, tears, lacrimal glands, aqueous humour, iris, ciliary body, trabeculum, lens, vitreous humour and diseases such as dry-eye, inflammation, keratoconus, corneal dystrophy, glaucoma and cataract.
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