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

• Main Authors: Xiaonan Liu (Author), Anna Pacwa (Author), Giorgia Bresciani (Author), Marta Swierczynska (Author), Mariola Dorecka (Author), Adrian Smedowski (Author)
• Format: Book
• Published: BMC, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/s10020-024-00875-y; 1528-3658
• Keywords: Retinal ciliopathy; Retinitis pigmentosa; Retinal dystrophy; Photoreceptors; RGC cells; Inherited blindness; Therapeutics. Pharmacology; RM1-950; Biochemistry; QD415-436
• Source: Molecular Medicine, Vol 30, Iss 1, Pp 1-14 (2024)

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.