视网膜原发性纤毛及其在视网膜神经退行性疾病中的功能障碍:超越纤毛疾病。

IF 6 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular Medicine Pub Date : 2024-07-26 DOI:10.1186/s10020-024-00875-y
Xiaonan Liu, Anna Pacwa, Giorgia Bresciani, Marta Swierczynska, Mariola Dorecka, Adrian Smedowski
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引用次数: 0

摘要

原生纤毛是从细胞膜延伸出来的感觉细胞器,存在于多种类型的细胞中。纤毛具有大量重要成分,能够检测和传递多种信号通路,包括 Wnt 和 Shh。反过来,纤毛生成和纤毛长度的调控也受到各种因素的影响,包括自噬、肌动蛋白细胞骨架的组织以及纤毛内部的信号传导。这种细胞成分的发育、维持和功能异常会导致一系列临床表现,即纤毛疾病。大多数纤毛疾病患者的视网膜变性发病率都很高。最常见的理论认为,视网膜变性主要是由视网膜感光细胞的功能和发育问题引起的。至于其他纤毛视网膜细胞类型对视网膜变性的影响,迄今为止还没有进行过研究。在这篇综述中,我们研究了初级纤毛在各种视网膜细胞类型中的出现及其在病理学中的意义。此外,我们还探讨了针对纤毛疾病的潜在治疗方法。通过这项工作,我们提出了新的观点,为未来视网膜纤毛疾病的研究和治疗阐明了创新理念。
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Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies.

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.

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来源期刊
Molecular Medicine
Molecular Medicine 医学-生化与分子生物学
CiteScore
8.60
自引率
0.00%
发文量
137
审稿时长
1 months
期刊介绍: Molecular Medicine is an open access journal that focuses on publishing recent findings related to disease pathogenesis at the molecular or physiological level. These insights can potentially contribute to the development of specific tools for disease diagnosis, treatment, or prevention. The journal considers manuscripts that present material pertinent to the genetic, molecular, or cellular underpinnings of critical physiological or disease processes. Submissions to Molecular Medicine are expected to elucidate the broader implications of the research findings for human disease and medicine in a manner that is accessible to a wide audience.
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