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视网膜初级纤毛及其在视网膜神经退行性疾病中的功能障碍:超越纤毛病。

Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies.

机构信息

Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Ceglana 35, 40-514, Katowice, Poland.

Institute of Biotechnology, HiLIFE, University of Helsinki, Helsinki, Finland.

出版信息

Mol Med. 2024 Jul 26;30(1):109. doi: 10.1186/s10020-024-00875-y.

Abstract

Primary cilia are sensory organelles that extend from the cellular membrane and are found in a wide range of cell types. Cilia possess a plethora of vital components that enable the detection and transmission of several signaling pathways, including Wnt and Shh. In turn, the regulation of ciliogenesis and cilium length is influenced by various factors, including autophagy, organization of the actin cytoskeleton, and signaling inside the cilium. Irregularities in the development, maintenance, and function of this cellular component lead to a range of clinical manifestations known as ciliopathies. The majority of people with ciliopathies have a high prevalence of retinal degeneration. The most common theory is that retinal degeneration is primarily caused by functional and developmental problems within retinal photoreceptors. The contribution of other ciliated retinal cell types to retinal degeneration has not been explored to date. In this review, we examine the occurrence of primary cilia in various retinal cell types and their significance in pathology. Additionally, we explore potential therapeutic approaches targeting ciliopathies. By engaging in this endeavor, we present new ideas that elucidate innovative concepts for the future investigation and treatment of retinal ciliopathies.

摘要

原发性纤毛是从细胞膜延伸出来的感觉器官,存在于多种细胞类型中。纤毛拥有许多重要的组成部分,使其能够检测和传递多种信号通路,包括 Wnt 和 Shh。反过来,纤毛发生和纤毛长度的调节受到多种因素的影响,包括自噬、肌动蛋白细胞骨架的组织和纤毛内的信号。这个细胞成分的发育、维持和功能的异常导致了一系列被称为纤毛病的临床表现。大多数患有纤毛病的人都有很高的视网膜变性患病率。最常见的理论是,视网膜变性主要是由视网膜光感受器内的功能和发育问题引起的。迄今为止,尚未探索其他纤毛状视网膜细胞类型对视网膜变性的贡献。在这篇综述中,我们研究了各种视网膜细胞类型中原发性纤毛的发生及其在病理学中的意义。此外,我们还探讨了针对纤毛病的潜在治疗方法。通过进行这项研究,我们提出了新的想法,为未来研究和治疗视网膜纤毛病阐明了创新的概念。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ebef/11282803/7dcf8158602c/10020_2024_875_Fig1_HTML.jpg

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