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Cells
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The Role of Cilia in Health and Diseases
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The Role of Cilia in Health and Diseases

A special issue of Cells (ISSN 2073-4409).

Deadline for manuscript submissions: closed (30 April 2024) | Viewed by 4685

Special Issue Editor

Dr. Rim Hjeij

E-Mail Website
Guest Editor
Department of General Paediatrics, Universitätsklinikum Münster, Muenster, Germany
Interests: identification of new ciliary genes/components/proteins; deciphering the molecular structure of human motile cilia; genetic and molecular diagnosis of motile ciliopathies; the role of outer dynein arm docking complex in primary ciliary dyskinesia

Special Issue Information

Dear Colleagues,

Cilia, hair like tiny organelles present on almost every cell type of the human body, have different important functions in the maintenance of human body health and organization. Primary cilia are known for their sensory roles in development, proliferation, differentiation and cell survival; whereas motile cilia/flagella are implicated in preserving a functional airway clearance, in maintaining an appropriate cerebrospinal fluid flow, in assuring a correct left-right body asymmetry as well as male and female reproductive function. Diseases resulting from aberrant ciliary function and/or motility caused by genetic mutations in ciliary genes are known as ciliopathies. Primary Ciliary Dyskinesia (PCD) is a motile ciliopathy comprising defects in the respiratory, reproductive, central nervous and embryonic nodal systems. Due to the large spectrum of anomalies in multiple organ systems, PCD and other motile ciliopathies have to be thoroughly investigated. The identification of motile ciliopathy-associated genes is also of great importance for future possible gene therapy.     

This special Issue will discuss the role of motile cilia in the human health and its 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 are dedicated to motile cilia and their role in human health and diseases. Articles on therapeutics addressing cilia function are also encouraged.

Dr. Rim Hjeij
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

  • motile cilia
  • motile ciliopathy
  • Primary ciliary dyskinesia
  • genetic screening
  • bronchiectasis
  • hydrocephalus
  • laterality defects
  • infertility
  • gene therapy

Published Papers (3 papers)

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Research

11 pages, 2082 KiB  
Communication
Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis
by Wilfredo De Jesús-Rojas, Zachary J. Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M. Quiñones, Marcos J. Ramos-Benitez and Ricardo A. Mosquera
Cells 2024, 13(7), 567; https://doi.org/10.3390/cells13070567 - 24 Mar 2024
Viewed by 1023
Abstract
Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite 70% of Puerto Rican patients having the RSPH4A [c.921+3_921+6del (intronic)] founder mutation, the characterization of [...] Read more.
Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite 70% of Puerto Rican patients having the RSPH4A [c.921+3_921+6del (intronic)] founder mutation, the characterization of the ciliary dysfunction remains unidentified due to the unavailability of advanced diagnostic modalities like High-Speed Video Microscopy Analysis (HSVA). Our study implemented HSVA for the first time on the island as a tool to better diagnose and characterize the RSPH4A [c.921+3_921+6del (intronic)] founder mutation in Puerto Rican patients. By applying HSVA, we analyzed the ciliary beat frequency (CBF) and pattern (CBP) in native Puerto Rican patients with PCD. Our results showed decreased CBF and a rotational CBP linked to the RSPH4A founder mutation in Puerto Ricans, presenting a novel diagnostic marker that could be implemented as an axillary test into the PCD diagnosis algorithm in Puerto Rico. The integration of HSVA technology in Puerto Rico substantially enhances the PCD evaluation and diagnosis framework, facilitating prompt detection and early intervention for improved disease management. This initiative, demonstrating the potential of HSVA as an adjunctive test within the PCD diagnostic algorithm, could serve as a blueprint for analogous developments throughout Latin America. Full article
(This article belongs to the Special Issue The Role of Cilia in Health and Diseases)
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15 pages, 10894 KiB  
Article
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene
by Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández-Cancio, Sandra Rovira-Amigo, Thomas Burgoyne, Rai Ranjit, Virginia Aquino, Noemí Toro-Barrios, Rosario Carmona, Eva Polverino, Maria Cols, Antonio Moreno-Galdó, Núria Camats-Tarruella and Gemma Marfany
Cells 2024, 13(6), 524; https://doi.org/10.3390/cells13060524 - 16 Mar 2024
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Abstract
We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the RPGR [...] Read more.
We report a novel RPGR missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the RPGR variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia. The pathogenicity of the variant on the RPGR protein was evaluated by in vitro studies transiently transfecting the mutated RPGR gene, and immunofluorescence analysis on nasal brushing samples. Whole-exome sequencing was conducted to identify potential modifier variants. In vitro studies showed that the mutated RPGR protein could not localise to the cilium and impaired cilium formation. Accordingly, RPGR was abnormally distributed in the siblings’ nasal brushing samples. In addition, a missense variant in CEP290 was identified. The concurrent RPGR variant influenced ciliary mislocalisation of the protein. We provide a comprehensive characterisation of motile cilia in this XLRP family, with only the proband presenting PCD symptoms. The variant’s pathogenicity was confirmed, although it alone does not explain the respiratory symptoms. Finally, the CEP290 gene may be a potential modifier for respiratory symptoms in patients with RPGR mutations. Full article
(This article belongs to the Special Issue The Role of Cilia in Health and Diseases)
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14 pages, 9113 KiB  
Article
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype
by Ben O. Staar, Jan Hegermann, Bernd Auber, Raphael Ewen, Sandra von Hardenberg, Ruth Olmer, Isabell Pink, Jessica Rademacher, Martin Wetzke and Felix C. Ringshausen
Cells 2023, 12(22), 2651; https://doi.org/10.3390/cells12222651 - 18 Nov 2023
Viewed by 1135
Abstract
Whole-exome sequencing has expedited the diagnostic work-up of primary ciliary dyskinesia (PCD), when used in addition to clinical phenotype and nasal nitric oxide. However, it reveals variants of uncertain significance (VUS) in established PCD genes or (likely) pathogenic variants in genes of uncertain [...] Read more.
Whole-exome sequencing has expedited the diagnostic work-up of primary ciliary dyskinesia (PCD), when used in addition to clinical phenotype and nasal nitric oxide. However, it reveals variants of uncertain significance (VUS) in established PCD genes or (likely) pathogenic variants in genes of uncertain significance in approximately 30% of tested individuals. We aimed to assess genotype–phenotype correlations in adults with bronchiectasis, clinical suspicion of PCD, and inconclusive whole-exome sequencing results using transmission electron microscopy (TEM) and ciliary image averaging by the PCD Detect software. We recruited 16 patients with VUS in CCDC39, CCDC40, CCDC103, DNAH5, DNAH5/CCDC40, DNAH8/HYDIN, DNAH11, and DNAI1 as well as variants in the PCD candidate genes DNAH1, DNAH7, NEK10, and NME5. We found normal ciliary ultrastructure in eight patients with VUS in CCDC39, DNAH1, DNAH7, DNAH8/HYDIN, DNAH11, and DNAI1. In six patients with VUS in CCDC40, CCDC103, DNAH5, and DNAI1, we identified a corresponding ultrastructural hallmark defect. In one patient with homozygous variant in NME5, we detected a central complex defect supporting clinical relevance. Using TEM as a targeted approach, we established important genotype–phenotype correlations and definite PCD in a considerable proportion of patients. Overall, the PCD Detect software proved feasible in support of TEM. Full article
(This article belongs to the Special Issue The Role of Cilia in Health and Diseases)
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