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Ciliary Genes in Renal Cystic Diseases

Department of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, 01-813 Warsaw, Poland
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Cells 2020, 9(4), 907; https://doi.org/10.3390/cells9040907
Received: 3 March 2020 / Revised: 27 March 2020 / Accepted: 5 April 2020 / Published: 8 April 2020
(This article belongs to the Special Issue Epithelial Cell Mechanics: From Physiology to Pathology)
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal transduction. The impaired functioning of primary cilia leads to formation of cysts which in turn contribute to development of diverse renal diseases, including kidney ciliopathies and renal cancer. Here, we review current knowledge on the role of ciliary genes in kidney ciliopathies and renal cell carcinoma (RCC). Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in polycystic kidney disease and nephronophthisis, as well as rare genetic disorders, including syndromes of Joubert, Meckel-Gruber, Bardet-Biedl, Senior-Loken, Alström, Orofaciodigital syndrome type I and cranioectodermal dysplasia. We also show that RCC and classic kidney ciliopathies share commonly disturbed genes affecting cilia function, including VHL (von Hippel-Lindau tumor suppressor), PKD1 (polycystin 1, transient receptor potential channel interacting) and PKD2 (polycystin 2, transient receptor potential cation channel). Finally, we discuss the significance of ciliary genes as diagnostic and prognostic markers, as well as therapeutic targets in ciliopathies and cancer. View Full-Text
Keywords: primary cilia; ciliopathies; renal cell cancer; RCC; polycystic kidney disease; nephronophthisis; PKD1; PKD2; VHL; OFD1 primary cilia; ciliopathies; renal cell cancer; RCC; polycystic kidney disease; nephronophthisis; PKD1; PKD2; VHL; OFD1
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MDPI and ACS Style

Adamiok-Ostrowska, A.; Piekiełko-Witkowska, A. Ciliary Genes in Renal Cystic Diseases. Cells 2020, 9, 907.

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