The Role of Cilia in Health and Diseases

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

Deadline for manuscript submissions: 30 April 2024 | Viewed by 1413

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

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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 (1 paper)

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Research

14 pages, 9113 KiB  
Article
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype
Cells 2023, 12(22), 2651; https://doi.org/10.3390/cells12222651 - 18 Nov 2023
Viewed by 875
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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