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Cilia and Polycystic Kidney Disease

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Abstract

The primary cilium is a nearly ubiquitous microtubule-based structure present on most mammalian cell types. The exact function of the primary cilium in the kidney is still being assessed, but data indicate that it is an important signaling and sensory center. The cilium allows cells to respond to external environmental cues by regulating a wide range of pathways, and the cilium has been implicated as a mechanosensor detecting fluid movement across the surface of cells. Pathways currently associated with the cilium include hedgehog, Jak/Stat, mTOR, purinergic, and planar cell polarity. The clinical importance of the cilium is evident by data showing that mutations in many ciliary proteins cause a group of disorders collectively called the ciliopathies, the most common of which is polycystic kidney disease (PKD). Patients with ciliopathies frequently exhibit cystic kidney and liver disease, but can also present with a wide spectrum of phenotypes and developmental defects. Currently it is unknown which of the many ciliary pathways are responsible for the development of cyst pathology. This chapter will discuss the current understanding of the role that primary cilia have in the kidney and models of how disruption of ciliary functions may contribute to cystogenesis.

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  1. Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham Medical School, Birmingham, AL, USA

    Dawn E. Landis PhD, Scott J. Henke BA & Bradley K. Yoder PhD

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  1. John Gammill Professor in Polycystic Kidney Disease, Chief, Section of Nephrology and Hypertension, Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Benjamin D. Cowley, Jr.

  2. Federal Express Chair of Excellence, Chief, Division of Nephrology, Department of Pediatrics, Director, Tuberous Sclerosis Center of Excellence at Le Bonheur Children’s Hospital, Medical Director, Nephrology St. Jude Children’s Research Hospital, University of Tennessee Health Science Center, Children’s Foundation Research Center, Memphis, Tennessee, USA

    John J. Bissler

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Landis, D.E., Henke, S.J., Yoder, B.K. (2018). Cilia and Polycystic Kidney Disease. In: Cowley, Jr., B., Bissler, J. (eds) Polycystic Kidney Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-7784-0_5

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