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New Research Insights in Cystic Fibrosis and CFTR-Related Diseases
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New Research Insights in Cystic Fibrosis and CFTR-Related Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (30 June 2025) | Viewed by 2155

Special Issue Editor

Dr. Judith A. Coppinger

E-Mail Website
Guest Editor
School of Pharmacy and Biomolecular Sciences, RCSI University of Medicine and Health Sciences, Dublin, Ireland
Interests: exosomes; cystic fibrosis

Special Issue Information

Dear Colleagues,

Cystic fibrosis (CF) is caused by the congenital loss of function of the CF transmembrane conductance regulator (CFTR), a cAMP-regulated anion channel expressed within the plasma membrane of epithelial cells. Dysregulated CFTR function caused by genetic and/or environmental stresses can contribute to the pathogenesis of various diseases, including chronic obstructive pulmonary disease (COPD) and bronchiectasis. The landscape of CF has changed significantly over the past 30 years since the identification of the CFTR gene and the advent of CFTR-modulating drugs. Current research aims to improve our understanding of disease pathogenesis in the era of CFTR modulation. This includes new insights into the direct and indirect influences of CFTR modulation on the airway milieu, including resident pathogens, inflammation, and inflammatory cell function.

This Special Issue on the “New Research Insights in Cystic Fibrosis and CFTR-Related Diseases” will gather reviews and original articles that provide novel insights into the immune landscape of respiratory disease, as well as report on groundbreaking therapeutic approaches at the basic, translational, and clinical levels.

Papers investigating CFTR-related and other respiratory diseases with inherent signaling defects and pronounced immune responses are welcome, particularly biomolecular and clinical studies providing expert insights into the advances in the respiratory research field.

Dr. Judith A. Coppinger
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • cystic fibrosis
  • CFTR related diseases
  • COPD
  • immune cells
  • extracellular vesicles
  • neutrophils
  • therapeutics
  • biomarkers

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Published Papers (3 papers)

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Research

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21 pages, 321 KiB  
Article
The Spectrum and Carrier Frequencies of Common Pathogenic Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Men from the General Population: The Role of Ethnicity
by Ludmila Osadchuk, Mikhail Ivanov, Elena Komova and Alexander Osadchuk
Int. J. Mol. Sci. 2025, 26(14), 6625; https://doi.org/10.3390/ijms26146625 - 10 Jul 2025
Viewed by 215
Abstract
Mutations in the CFTR gene, which cause the autosomal recessive disease cystic fibrosis, can also affect male fertility. The aim of this study was to investigate the spectrum and carrier frequency of common pathogenic CFTR variants among men from the general population, analyze [...] Read more.
Mutations in the CFTR gene, which cause the autosomal recessive disease cystic fibrosis, can also affect male fertility. The aim of this study was to investigate the spectrum and carrier frequency of common pathogenic CFTR variants among men from the general population, analyze ethnic differences, and assess associations with male fertility indicators. Male volunteers (n = 1895) from six cities in Russia and Belarus were analyzed for the carrier frequencies of 17 pathogenic CFTR variants and two polymorphisms, as well as semen quality and reproductive hormone levels. Heterozygous carriers of six pathogenic CFTR mutations, F508del, G542X, N1303K, 3849+10kbC>T, CFTRdele2,3, and R117C, and two polymorphisms, IVS9-5T and 5T-(12-13) TG, were identified, with cumulative frequencies of 2.06% and 6.65%, respectively. Significant ethnic differences were revealed in the spectrum and carrier frequencies of pathogenic CFTR variants among Slavs, Buryats, and Yakuts. Slavs exhibited a high proportion of heterozygous carriers of CFTR mutations (2.70%), whereas none were detected among Buryats and Yakuts. The highest carrier frequency for the CFTR polymorphism was observed among Slavs (8.35%), followed by Buryats (5.83%) and Yakuts (1.36%). No association was found between the carriers of identified CFTR variants and male fertility indicators. Thus, the spectrum and carrier frequency of genetic CFTR variants are determined by the ethnic composition of the population, providing a basis for ethnicity-specific screening of pathogenic CFTR variants. Full article
(This article belongs to the Special Issue New Research Insights in Cystic Fibrosis and CFTR-Related Diseases)

Review

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19 pages, 334 KiB  
Review
Effects of Elevated Glucose on Bacterial Respiratory Infections in Cystic Fibrosis and Chronic Airway Diseases
by Emily M. Hughes and Megan R. Kiedrowski
Int. J. Mol. Sci. 2025, 26(12), 5597; https://doi.org/10.3390/ijms26125597 - 11 Jun 2025
Viewed by 387
Abstract
People with diabetes are at increased risk of developing lung infections and have more severe complications. However, the link between these risks and outcomes is unknown. These trends are also seen in people with chronic lung diseases, including cystic fibrosis (CF); however, less [...] Read more.
People with diabetes are at increased risk of developing lung infections and have more severe complications. However, the link between these risks and outcomes is unknown. These trends are also seen in people with chronic lung diseases, including cystic fibrosis (CF); however, less is known about the underlying mechanism of disease in these cases. Traditional CF bacterial pathogens are often associated with worse disease outcomes in non-CF individuals with diabetes or hyperglycemia who have other acute or chronic airway disease, yet how diabetes and hyperglycemia further compound chronic CF infections is less clear. In this review, we focus on what has been observed clinically regarding bacterial respiratory infections and diabetes, and we discuss model systems used to study these relationships. We also review what is known about the role of diabetes in chronic CF lung disease and how information gleaned from the general population can inform future research directions in the new era of highly effective modulator therapies for CF. Full article
(This article belongs to the Special Issue New Research Insights in Cystic Fibrosis and CFTR-Related Diseases)
15 pages, 857 KiB  
Review
Innate Immunity in Cystic Fibrosis: Varied Effects of CFTR Modulator Therapy on Cell-to-Cell Communication
by Jennifer Hynes, Clifford C. Taggart, Rabindra Tirouvanziam and Judith A. Coppinger
Int. J. Mol. Sci. 2025, 26(6), 2636; https://doi.org/10.3390/ijms26062636 - 14 Mar 2025
Viewed by 1074
Abstract
Cystic Fibrosis (CF) is a life-shortening, multi-organ disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Prominent clinical features of CF take place in the lung, hallmarked by cycles of bacterial infection and a dysfunctional inflammatory airway response, leading to [...] Read more.
Cystic Fibrosis (CF) is a life-shortening, multi-organ disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Prominent clinical features of CF take place in the lung, hallmarked by cycles of bacterial infection and a dysfunctional inflammatory airway response, leading to eventual respiratory failure. Bidirectional crosstalk between epithelial cells, leukocytes (e.g., neutrophils, macrophages) and bacteria via release of intra-cellular mediators is key to driving inflammation in CF airways. In recent years, a highly effective combination of therapeutics targeting the CFTR defect have revolutionized treatment in CF. Despite these advancements and due to the complexity of the immune response in the CF airway, the full impact of highly effective modulator therapy (HEMT) on airway inflammation is not fully determined. This review provides the evidence to date on crosstalk mechanisms between host epithelium, leukocytes and bacteria and examines the effect of HEMT on both soluble and membrane-derived immune mediators in clinical samples. The varied effects of HEMT on expression of key proteases, cytokines and extracellular vesicles (EVs) in relation to clinical parameters is assessed. Advances in treatment with HEMT have shown potential in dampening the chronic inflammatory response in CF airways. However, to fully quell inflammation and maximize lung tissue resilience, further interventions may be necessary. Exploring the effects of HEMT on key immune mediators paves the way for identifying new anti-inflammatory approaches targeting host immune cell interactions, such as EV-directed lung therapies. Full article
(This article belongs to the Special Issue New Research Insights in Cystic Fibrosis and CFTR-Related Diseases)
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