PDF(Pubmed)
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：
初级纤毛是从细胞膜延伸的感觉细胞器，存在于多种细胞类型中。纤毛具有大量的重要成分，能够检测和传递几种信号通路，包括Wnt和Shh。反过来,纤毛发生和纤毛长度的调节受各种因素的影响，包括自噬,肌动蛋白细胞骨架的组织，并在纤毛内发出信号。发展中的不规则性，维护,这种细胞成分的功能导致一系列称为纤毛病的临床表现。大多数患有纤毛病变的人视网膜变性的患病率很高。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，尚未探索其他纤毛视网膜细胞类型对视网膜变性的贡献。在这次审查中,我们检查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,我们探索针对纤毛病变的潜在治疗方法。通过参与这项努力，我们提出了新的想法，为未来视网膜纤毛病变的研究和治疗阐明了创新的概念。
