The multi-organ disease cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, a cAMP regulated chloride (Cl) and bicarbonate (HCO) ion channel expressed at the apical plasma membrane (PM) of epithelial cells. Reduced CFTR protein results in decreased Cl secretion and excessive sodium reabsorption in epithelial cells, which consequently leads to epithelial dehydration and the accumulation of thick mucus within the affected organs, such as the lungs, pancreas, gastrointestinal (GI) tract, reproductive system and sweat glands. However, CFTR has been implicated in other functions besides transporting ions across epithelia. The rising number of references concerning its association to actin cytoskeleton organization, epithelial cell junctions and extracellular matrix (ECM) proteins suggests a role in the formation and maintenance of epithelial apical basolateral polarity. This review will focus on recent literature (the last 10 years) substantiating the role of CFTR in cell junction formation and actin cytoskeleton organization with its connection to the ECM.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8910340 | PMC |
| http://dx.doi.org/10.3390/ijms23052688 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
CFTR dictates monocyte adhesion by facilitating integrin clustering but not activation.
Proc Natl Acad Sci U S A
January 2025
Department of Immunology, School of Medicine, UConn Health, Farmington, CT 06030.
Monocytes are critical in controlling tissue infections and inflammation. Monocyte dysfunction contributes to the inflammatory pathogenesis of cystic fibrosis (CF) caused by CF transmembrane conductance regulator (CFTR) mutations, making CF a clinically relevant disease model for studying the contribution of monocytes to inflammation. Although CF monocytes exhibited adhesion defects, the precise mechanism is unclear.
View Article and Find Full Text PDFDiagnostic value and fracture healing-preventing effect of upregulated microRNA-4534 in patients with osteoporotic fractures.
J Formos Med Assoc
January 2025
Department of Rehabilitation Medicine, The Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, 533000, China. Electronic address:
Background: Osteoporosis fracture is a common and most serious complication of osteoporosis.
Hypothesis: This study sought to assess the level, the diagnostic potential, and the effect of circulating miR-4534 in osteoporotic fractures.
Methods: GSE74209 and GSE93883 were analyzed using GEO2R online tool for differentially expressed microRNAs in osteoporotic fractures.
CFTR mutation is associated with bone differentiation abnormalities in cystic fibrosis.
J Cyst Fibros
January 2025
The Lundquist Institute, Harbor-UCLA Medical Center, Torrance 90502 CA, USA. Electronic address:
Background: Cystic Fibrosis-related Bone Disease is an emerging challenge faced by 50 % of adult people with cystic fibrosis (CF). The multifactorial causes of this comorbidity remain elusive. However, congenital bone defects have been observed in animal models with CFTR mutations, suggesting its importance.
View Article and Find Full Text PDFEffect of CFTR modulators Elexacaftor/Tezacaftor/Ivacaftor on lipid metabolism in human bronchial epithelial cells.
Glycoconj J
January 2025
Department of Medical Biotechnology and Translational Medicine, University of Milano, Milan, Italy.
Cystic Fibrosis (CF) is a life-threatening hereditary disease resulting from mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that encodes a chloride channel essential for ion transport in epithelial cells. Mutations in CFTR, notably the prevalent F508del mutation, impair chloride transport, severely affecting the respiratory system and leading to recurrent infections. Recent therapeutic advancements include CFTR modulators such as ETI, a combination of two correctors (Elexacaftor and Tezacaftor) and a potentiator (Ivacaftor), that can improve CFTR function in patients with the F508del mutation.
View Article and Find Full Text PDFFunctional rescue of F508del-CFTR through revertant mutations introduced by CRISPR base editing.
Mol Ther
January 2025
Department CIBIO, University of Trento, Via delle Regole 101, 38123 Trento, Italy. Electronic address:
Cystic Fibrosis (CF) is a life-shortening autosomal recessive disease caused by mutations in the CFTR gene, resulting in functional impairment of the encoded ion channel. F508del mutation, a trinucleotide deletion, is the most frequent cause of CF affecting approximately 80% of persons with cystic fibrosis (pwCFs). Even though current pharmacological treatments alleviate the F508del-CF disease symptoms there is no definitive cure.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!