Cargando…

Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies

Cystic fibrosis (CF) is a monogenic syndrome determined by over 2000 mutations in the CF Transmembrane Conductance Regulator (CFTR) gene harbored on chromosome 7. In people with CF (PWCF), lung disease is the major determinant of morbidity and mortality and is characterized by a clinical phenotype w...

Descripción completa

Detalles Bibliográficos
Autores principales: Carbone, Annalucia, Vitullo, Pamela, Di Gioia, Sante, Conese, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606852/
https://www.ncbi.nlm.nih.gov/pubmed/37895314
http://dx.doi.org/10.3390/genes14101966
_version_ 1785127413959622656
author Carbone, Annalucia
Vitullo, Pamela
Di Gioia, Sante
Conese, Massimo
author_facet Carbone, Annalucia
Vitullo, Pamela
Di Gioia, Sante
Conese, Massimo
author_sort Carbone, Annalucia
collection PubMed
description Cystic fibrosis (CF) is a monogenic syndrome determined by over 2000 mutations in the CF Transmembrane Conductance Regulator (CFTR) gene harbored on chromosome 7. In people with CF (PWCF), lung disease is the major determinant of morbidity and mortality and is characterized by a clinical phenotype which differs in the presence of equal mutational assets, indicating that genetic and environmental modifiers play an important role in this variability. Airway inflammation determines the pathophysiology of CF lung disease (CFLD) both at its onset and progression. In this narrative review, we aim to depict the inflammatory process in CF lung, with a particular emphasis on those genetic polymorphisms that could modify the clinical outcome of the respiratory disease in PWCF. The natural history of CF has been changed since the introduction of CFTR modulator therapies in the clinical arena. However, also in this case, there is a patient-to-patient variable response. We provide an overview on inflammatory/immunity gene variants that affect CFLD severity and an appraisal of the effects of CFTR modulator therapies on the inflammatory process in lung disease and how this knowledge may advance the optimization of the management of PWCF.
format Online
Article
Text
id pubmed-10606852
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-106068522023-10-28 Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies Carbone, Annalucia Vitullo, Pamela Di Gioia, Sante Conese, Massimo Genes (Basel) Review Cystic fibrosis (CF) is a monogenic syndrome determined by over 2000 mutations in the CF Transmembrane Conductance Regulator (CFTR) gene harbored on chromosome 7. In people with CF (PWCF), lung disease is the major determinant of morbidity and mortality and is characterized by a clinical phenotype which differs in the presence of equal mutational assets, indicating that genetic and environmental modifiers play an important role in this variability. Airway inflammation determines the pathophysiology of CF lung disease (CFLD) both at its onset and progression. In this narrative review, we aim to depict the inflammatory process in CF lung, with a particular emphasis on those genetic polymorphisms that could modify the clinical outcome of the respiratory disease in PWCF. The natural history of CF has been changed since the introduction of CFTR modulator therapies in the clinical arena. However, also in this case, there is a patient-to-patient variable response. We provide an overview on inflammatory/immunity gene variants that affect CFLD severity and an appraisal of the effects of CFTR modulator therapies on the inflammatory process in lung disease and how this knowledge may advance the optimization of the management of PWCF. MDPI 2023-10-20 /pmc/articles/PMC10606852/ /pubmed/37895314 http://dx.doi.org/10.3390/genes14101966 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Carbone, Annalucia
Vitullo, Pamela
Di Gioia, Sante
Conese, Massimo
Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies
title Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies
title_full Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies
title_fullStr Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies
title_full_unstemmed Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies
title_short Lung Inflammatory Genes in Cystic Fibrosis and Their Relevance to Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapies
title_sort lung inflammatory genes in cystic fibrosis and their relevance to cystic fibrosis transmembrane conductance regulator modulator therapies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606852/
https://www.ncbi.nlm.nih.gov/pubmed/37895314
http://dx.doi.org/10.3390/genes14101966
work_keys_str_mv AT carboneannalucia lunginflammatorygenesincysticfibrosisandtheirrelevancetocysticfibrosistransmembraneconductanceregulatormodulatortherapies
AT vitullopamela lunginflammatorygenesincysticfibrosisandtheirrelevancetocysticfibrosistransmembraneconductanceregulatormodulatortherapies
AT digioiasante lunginflammatorygenesincysticfibrosisandtheirrelevancetocysticfibrosistransmembraneconductanceregulatormodulatortherapies
AT conesemassimo lunginflammatorygenesincysticfibrosisandtheirrelevancetocysticfibrosistransmembraneconductanceregulatormodulatortherapies