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Cells
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Primary Cilia in Health and Diseases
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Primary Cilia in Health and Diseases

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cell Motility and Adhesion".

Deadline for manuscript submissions: closed (1 August 2024) | Viewed by 13118

Special Issue Editor

Prof. Dr. Dong-Hyung Cho

E-Mail Website1 Website2 Website3
Guest Editor
School of Life Sciences, Graduate School, Kyungpook National University, Daegu 41566, Korea
Interests: autophagy; peroxisome; lysosome; primary cilia; cell death
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Through the cilium, cells and tissues adapt to changes in the extracellular environment by regulating cell cycle, cellular function, cell shape, and movement. For the cilium to work as an antenna, a variety of receptors, transporter proteins, ion channels, and effector molecules are localized to the cilium. Moreover, signaling pathways orchestrated by primary cilia play important roles in development, proliferation, differentiation and cell survival. Therefore, loss of primary ciliogenesis is highly linked with genetic diseases, known as ciliopathies, which show a large spectrum of anomalies in multiple organ systems. In addition, recent evidence suggests that dysregulation of primary cilia is also associated with various human diseases, including cancer, metabolic diseases, and neurodegenerative diseases.

This Special Issue will discuss the role of primary cilia in development, survival, death, and pathophysiological conditions. We encourage you to contribute to this Special Issue of Cells and submit a research article, a review article, or a perspective and opinion article that is dedicated to primary cilia.

Prof. Dr. Dong-Hyung Cho
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • primary cilia
  • ciliogenesis
  • ciliopathy
  • development
  • signaling
  • sensory system
  • disease
  • screening

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Published Papers (4 papers)

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Research

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11 pages, 5423 KiB  
Article
An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling
by Ana Limerick, Ellie A. McCabe, Jacob S. Turner, Kevin W. Kuang, David L. Brautigan, Yi Hao, Cheuk Ying Chu, Sean H. Fu, Sean Ahmadi, Wenhao Xu and Zheng Fu
Cells 2024, 13(15), 1258; https://doi.org/10.3390/cells13151258 - 26 Jul 2024
Cited by 2 | Viewed by 1861
Abstract
Mutations in human CILK1 (ciliogenesis associated kinase 1) are linked to ciliopathies and epilepsy. Homozygous point and nonsense mutations that extinguish kinase activity impair primary cilia function, whereas mutations outside the kinase domain are not well understood. Here, we produced a knock-in mouse [...] Read more.
Mutations in human CILK1 (ciliogenesis associated kinase 1) are linked to ciliopathies and epilepsy. Homozygous point and nonsense mutations that extinguish kinase activity impair primary cilia function, whereas mutations outside the kinase domain are not well understood. Here, we produced a knock-in mouse equivalent to the human CILK1 A615T variant identified in juvenile myoclonic epilepsy (JME). This residue is in the intrinsically disordered C-terminal region of CILK1 separate from the kinase domain. Mouse embryo fibroblasts (MEFs) with either heterozygous or homozygous A612T mutant alleles exhibited a higher ciliation rate, shorter individual cilia, and upregulation of ciliary Hedgehog signaling. Thus, a single A612T mutant allele was sufficient to impair primary cilia and ciliary signaling in MEFs. Gene expression profiles of wild-type versus mutant MEFs revealed profound changes in cilia-related molecular functions and biological processes. The CILK1 A615T mutant protein was not increased to the same level as the wild-type protein when co-expressed with scaffold protein KATNIP (katanin-interacting protein). Our data show that KATNIP regulation of a JME-associated single-residue variant of CILK1 is compromised, and this impairs the maintenance of primary cilia and Hedgehog signaling. Full article
(This article belongs to the Special Issue Primary Cilia in Health and Diseases)
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24 pages, 5658 KiB  
Article
Primary Cilium Identifies a Quiescent Cell Population in the Human Intestinal Crypt
by Blanche Sénicourt, Gabriel Cloutier, Nuria Basora, Sepideh Fallah, Andréanne Laniel, Christine Lavoie and Jean-François Beaulieu
Cells 2023, 12(7), 1059; https://doi.org/10.3390/cells12071059 - 31 Mar 2023
Cited by 4 | Viewed by 2880
Abstract
Primary cilia are sensory antennae located at the cell surface which mediate a variety of extracellular signals involved in development, tissue homeostasis, stem cells and cancer. Primary cilia are found in an extensive array of vertebrae cells but can only be generated when [...] Read more.
Primary cilia are sensory antennae located at the cell surface which mediate a variety of extracellular signals involved in development, tissue homeostasis, stem cells and cancer. Primary cilia are found in an extensive array of vertebrae cells but can only be generated when cells become quiescent. The small intestinal epithelium is a rapidly self-renewing tissue organized into a functional unit called the crypt–villus axis, containing progenitor and differentiated cells, respectively. Terminally differentiated villus cells are notoriously devoid of primary cilia. We sought to determine if intestinal crypts contain a quiescent cell population that could be identified by the presence of primary cilia. Here we show that primary cilia are detected in a subset of cells located deep in the crypts slightly above a Paneth cell population. Using a normal epithelial proliferative crypt cell model, we show that primary cilia assembly and activity correlate with a quiescent state. These results provide further evidence for the existence of a quiescent cell population in the human small intestine and suggest the potential for new modes of regulation in stem cell dynamics. Full article
(This article belongs to the Special Issue Primary Cilia in Health and Diseases)
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10 pages, 1663 KiB  
Article
Carnitine Protects against MPP+-Induced Neurotoxicity and Inflammation by Promoting Primary Ciliogenesis in SH-SY5Y Cells
by Ji-Eun Bae, Joon Bum Kim, Doo Sin Jo, Na Yeon Park, Yong Hwan Kim, Ha Jung Lee, Seong Hyun Kim, So Hyun Kim, Mikyung Son, Pansoo Kim, Hong-Yeoul Ryu, Won Ha Lee, Zae Young Ryoo, Hyun-Shik Lee, Yong-Keun Jung and Dong-Hyung Cho
Cells 2022, 11(17), 2722; https://doi.org/10.3390/cells11172722 - 1 Sep 2022
Cited by 12 | Viewed by 3299
Abstract
Primary cilia help to maintain cellular homeostasis by sensing conditions in the extracellular environment, including growth factors, nutrients, and hormones that are involved in various signaling pathways. Recently, we have shown that enhanced primary ciliogenesis in dopamine neurons promotes neuronal survival in a [...] Read more.
Primary cilia help to maintain cellular homeostasis by sensing conditions in the extracellular environment, including growth factors, nutrients, and hormones that are involved in various signaling pathways. Recently, we have shown that enhanced primary ciliogenesis in dopamine neurons promotes neuronal survival in a Parkinson’s disease model. Moreover, we performed fecal metabolite screening in order to identify several candidates for improving primary ciliogenesis, including L-carnitine and acetyl-L-carnitine. However, the role of carnitine in primary ciliogenesis has remained unclear. In addition, the relationship between primary cilia and neurodegenerative diseases has remained unclear. In this study, we have evaluated the effects of carnitine on primary ciliogenesis in 1-methyl-4-phenylpyridinium ion (MPP+)-treated cells. We found that both L-carnitine and acetyl-L-carnitine promoted primary ciliogenesis in SH-SY5Y cells. In addition, the enhancement of ciliogenesis by carnitine suppressed MPP+-induced mitochondrial reactive oxygen species overproduction and mitochondrial fragmentation in SH-SY5Y cells. Moreover, carnitine inhibited the production of pro-inflammatory cytokines in MPP+-treated SH-SY5Y cells. Taken together, our findings suggest that enhanced ciliogenesis regulates MPP+-induced neurotoxicity and inflammation. Full article
(This article belongs to the Special Issue Primary Cilia in Health and Diseases)
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Review

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24 pages, 5453 KiB  
Review
The Interplay between Airway Cilia and Coronavirus Infection, Implications for Prevention and Control of Airway Viral Infections
by Xuyao Dai, Ruodan Xu and Ning Li
Cells 2024, 13(16), 1353; https://doi.org/10.3390/cells13161353 - 14 Aug 2024
Cited by 4 | Viewed by 3631
Abstract
Coronaviruses (CoVs) are a class of respiratory viruses with the potential to cause severe respiratory diseases by infecting cells of the upper respiratory tract, bronchial epithelium, and lung. The airway cilia are distributed on the surface of respiratory epithelial cells, forming the first [...] Read more.
Coronaviruses (CoVs) are a class of respiratory viruses with the potential to cause severe respiratory diseases by infecting cells of the upper respiratory tract, bronchial epithelium, and lung. The airway cilia are distributed on the surface of respiratory epithelial cells, forming the first point of contact between the host and the inhaled coronaviruses. The function of the airway cilia is to oscillate and sense, thereby defending against and removing pathogens to maintain the cleanliness and patency of the respiratory tract. Following infection of the respiratory tract, coronaviruses exploit the cilia to invade and replicate in epithelial cells while also damaging the cilia to facilitate the spread and exacerbation of respiratory diseases. It is therefore imperative to investigate the interactions between coronaviruses and respiratory cilia, as well as to elucidate the functional mechanism of respiratory cilia following coronavirus invasion, in order to develop effective strategies for the prevention and treatment of respiratory viral infections. This review commences with an overview of the fundamental characteristics of airway cilia, and then, based on the interplay between airway cilia and coronavirus infection, we propose that ciliary protection and restoration may represent potential therapeutic approaches in emerging and re-emerging coronavirus pandemics. Full article
(This article belongs to the Special Issue Primary Cilia in Health and Diseases)
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