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The role of primary cilia in glaucoma pathogenesis

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Abstract:

Primary cilia are immotile organelles found in most mammalian cells, including those in the eye. Currently, primary cilia are thought to function as sensory antenna-like organelles, which detect and transduce extracellular stimuli into intracellular signals affecting a wide variety of functions, such as cell growth and differentiation as well as tissue homeostasis. Most diseases that result from primary cilia defects or impairment of their signaling are commonly referred as ciliopathies. Although cilia have been extensively studied in organs such as the kidney, their role in eye development and disease pathogenesis is less appreciated. Evidence of the importance of primary cilia is supported by the fact that most syndromic ciliopathies are associated with different ocular phenotypes. Recent studies have not only highlighted that many of the tissues involved in aqueous humor regulation harbor primary cilia, but also that cilia in these tissues might play a critical role in glaucoma pathogenesis. In this context, the investigation of the ciliary mechanisms involved in aqueous humor regulation represents a novel approach for the development of therapeutics for this group of neurodegenerative diseases.

Glaucoma Research 2020-2022, pp. 73-82 #7
Edited by: Paul A. Knepper and John R. Samples
© Kugler Publications, Amsterdam, The Netherlands

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