缝隙连接蛋白在视网膜疾病病理生理学中的作用。

Connexins Biology in the Pathophysiology of Retinal Diseases.

机构信息

School of Health Sciences and Veterinary School, Universidad CEU Cardenal Herrera, CEU Universities, Valencia, Spain.

Laboratory for Nutrition and Vision Research, USDA Human Nutrition Research Center on Aging, Tufts University, Boston, MA, USA.

出版信息

Adv Exp Med Biol. 2023;1415:229-234. doi: 10.1007/978-3-031-27681-1_33.

DOI:10.1007/978-3-031-27681-1_33

PMID:37440038

Abstract

Connexins (Cx) are a family of transmembrane proteins that form gap junction intercellular channels that connect neighboring cells. These channels allow the passage of ions and other biomolecules smaller than 1 kDa, thereby synchronizing the cells both electrically and metabolically. Cxs are expressed in all retinal cell types and the diversity of Cx isoforms involved in the assembly of the channels provides a functional syncytium required for visual transduction. In this chapter, we summarize the status of current knowledge regarding Cx biology in retinal tissues and discuss how Cx dysfunction is associated with retinal disease pathophysiology. Although the contribution of Cx deficiency to retinal degeneration is not well understood, recent findings present Cx as a potential therapeutic target. Therefore, we will briefly discuss pharmacological approaches and gene therapies that are being explored to modulate Cx function and fight sight-threatening eye diseases.

摘要

间隙连接蛋白（Connexins，Cx）是一组跨膜蛋白，它们形成细胞间的间隙连接通道，连接相邻的细胞。这些通道允许小于 1kDa 的离子和其他生物分子通过，从而使细胞在电和代谢上同步。Cx 存在于所有视网膜细胞类型中，参与通道组装的 Cx 同工型的多样性为视觉转导提供了一个必需的功能合胞体。在本章中，我们总结了目前关于视网膜组织中 Cx 生物学的知识状况，并讨论了 Cx 功能障碍如何与视网膜疾病的病理生理学相关。虽然 Cx 缺失对视网膜变性的贡献尚不清楚，但最近的发现表明 Cx 是一个有潜力的治疗靶点。因此，我们将简要讨论正在探索的药理学方法和基因治疗，以调节 Cx 功能并对抗威胁视力的眼部疾病。