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. 2014 Dec 1;64(12):1126-1137.
doi: 10.1093/biosci/biu174.

Cilia and Diseases

Jason M Brown  1 , George B Witman  1
Affiliations

Cilia and Diseases

Jason M Brown et al. Bioscience. .

Abstract

In recent decades, cilia have moved from relative obscurity to a position of importance for understanding multiple complex human diseases. Now termed the ciliopathies, these diseases inflict devastating effects on millions of people worldwide. In this review, written primarily for teachers and students who may not yet be aware of the recent exciting developments in this field, we provide a general overview of our current understanding of cilia and human disease. We start with an introduction to cilia structure and assembly and indicate where they are found in the human body. We then discuss the clinical features of selected ciliopathies, with an emphasis on primary ciliary dyskinesia, polycystic kidney disease, and retinal degeneration. The history of ciliopathy research involves a fascinating interplay between basic and clinical sciences, highlighted in a timeline. Finally, we summarize the relative strengths of individual model organisms for ciliopathy research; many of these are suitable for classroom use.

Keywords: blindness; cilia; ciliopathies; cystic kidney disease; flagella.

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Figures

Figure 1.
Figure 1.
What are cilia and where are they found? (a) Selected locations of motile and nonmotile cilia in the human body. Micrographs: Olfactory, oviduct, photoreceptor, and kidney cilia reprinted with permission from Kessel and Kardon (1979); heart cilia reprinted with permission from Willaredt and colleagues (2012); nodal cilia reprinted with permission from Follit and colleagues (2014); ependymal cilia reprinted with permission from O'Callaghan and colleagues (1999); respiratory cilia, reprinted with permission from Rosenbaum and Witman (2002); sperm on oocyte, micrograph: George B. Witman. (b) Ciliary structure. On the left is a longitudinal representation of the cilium. On the right are cross sections at different levels, including the axoneme, transition zone, and basal body. Abbreviation: IFT, intraflagellar transport.
Figure 2.
Figure 2.
Representative ciliopathy phenotypes. (a) Normal human lungs. Photograph: National Institute for Occupational Safety, Centers for Disease Control. (b) Lungs with the dilated bronchioles characteristic of bronchiectasis. Photograph: Matthew M. Fitz, Loyola University Chicago, Stritch School of Medicine. (c) On the left is a normal mouse, and on the right is a mouse with situs inversus, in which there is a reversal of the asymmetric placement of internal organs. Photograph: Noah's Arkive Database, Department of Pathology, University of Georgia College of Veterinary Medicine (http://dlab.vet.uga.edu/NA). (d) polycystic kidney disease (PKD). Photograph: Vicente E. Torres, Mayo Clinic. (e) Normal vision and (f) what the world might look like with the loss of vision, which progresses from the periphery inward, in retinitis pigmentosa. Images: National Eye Institute, National Institutes of Health, reference nos: EDS01 and EDS07. (g) Nephronophthisis, another form of cystic kidney disease in which the cysts form at the corticomedulary junction and are associated with little or no kidney enlargement. Source: Reprinted with permission from Hildebrandt and Zhou (2007). (h) Constricted rib cage characteristic of asphyxiating thoracic dystrophies. Source: Reprinted with permission from Huber and Cormier-Daire (2012). (i) Polydactyly—extra digits. Source: Reprinted with permission from Aldahmesh and colleagues (2014). (j) Brachydactyly—shortened digits. Source: Reprinted with permission from Forsythe and Beales (2013).
Figure 3.
Figure 3.
Model organisms used in ciliopathy research. (a) The green alga Chlamydomonas reinhardtii with wild type (WT) on left and the ift88–1 mutant on right. Source: Reprinted with permission from Pazour and colleagues (2000). (b) The house mouse, Mus musculus. The WT is on the left, and a bbs4 mutant exhibiting obesity is on the right. Photograph: Val C. Sheffield (www.hhmi.org/research/molecular-genetics-human-obesity-syndrome). (c) The ciliate Tetrahymena thermophila. The WT is on the left, and a kinesin-II mutant, which is unable to complete division, is on the right. Source: Reprinted with permission from Brown and colleagues (1999). (d) The nematode Caenorhabditis elegans. Differential interference contrast microscopy image on top (micrograph: Zeynep F. Altun) and enlargement of head showing fluorescently tagged ciliary (arrowheads) and transition zone (arrows) proteins on bottom. Source: Reprinted with permission from Williams et al. . (e) The zebrafish, Danio rerio. The WT is on top, and a typical ciliary mutant with a curved body axis is on the bottom. Source: Reprinted with permission from Fogelgren and colleagues (2011). (f) The sleeping sickness parasite, Trypanosoma brucei. The nucleus is in blue, and the intraflagellar transport (IFT)-particle protein IFT172 is in green. Source: Reprinted with permission from Absalon and colleagues (2008). (g) The flatworm Schmidtea mediterranea. Source: Reprinted with permission from Rompolas and colleagues (2009).
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