Cross-talk between CFTR and sphingolipids in cystic fibrosis.

FEBS Open Bio

Department of Medical Biotechnology and Translational Medicine, University of Milan, Italy.

Published: September 2023

Cystic fibrosis (CF) is the most common inherited, life-limiting disorder in Caucasian populations. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), which lead to an impairment of protein expression and/or function. CFTR is a chloride/bicarbonate channel expressed at the apical surface of epithelial cells of different organs. Nowadays, more than 2100 CFTR genetic variants have been described, but not all of them cause CF. However, around 80-85% of the patients worldwide are characterized by the presence, at least in one allele, of the mutation F508del. CFTR mutations cause aberrant hydration and secretion of mucus in hollow organs. In the lungs, this condition favors bacterial colonization, allowing the development of chronic infections that lead to the onset of the CF lung disease, which is the main cause of death in patients. In recent years, evidence has reported that CFTR loss of function is responsible for alterations in a particular class of bioactive lipids, called sphingolipids (SL). SL are ubiquitously present in eukaryotic cells and are mainly asymmetrically located within the external leaflet of the plasma membrane, where they organize specific platforms capable of segregating a selected number of proteins. CFTR is associated with these platforms that are fundamental for its functioning. Considering the importance of SL in CFTR homeostasis, we attempt here to provide a critical overview of the literature to determine the role of these lipids in channel stability and activity, and whether their modulation in CF could be a target for new therapeutic approaches.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476574PMC
http://dx.doi.org/10.1002/2211-5463.13660DOI Listing

Publication Analysis

Top Keywords

cystic fibrosis
12
cftr
7
cross-talk cftr
4
cftr sphingolipids
4
sphingolipids cystic
4
fibrosis cystic
4
fibrosis common
4
common inherited
4
inherited life-limiting
4
life-limiting disorder
4

Similar Publications

Tobramycin dosing in patients with cystic fibrosis (CF) is challenged by its high pharmacokinetic (PK) variability and narrow therapeutic window. Doses are typically individualized using two-sample log-linear regression (LLR) to quantify the area under the concentration-time curve (AUC). Bayesian model-informed precision dosing (MIPD) may allow dose individualization with fewer samples; however, the relative performance of these methods is unknown.

View Article and Find Full Text PDF

Effects of a Tailored Home-Based Exercise Program, "KidMove", on Children with Cystic Fibrosis: A Quasi-Experimental Study.

Healthcare (Basel)

December 2024

Respiratory Research and Rehabilitation Laboratory (Lab3R), School of Health Sciences (ESSUA) and Institute of Biomedicine (iBiMED), University of Aveiro, Agras do Crasto-Campus Universitário de Santiago, Building 30, 3810-193 Aveiro, Portugal.

Exercise for children with cystic fibrosis leads to well-known health benefits. However, maintaining regular activity is challenging due to the daily demands of academics, clinical care, and family tasks. Home-based exercise programs offer a more adaptable alternative, fitting into family schedules.

View Article and Find Full Text PDF

Novel Cystic Fibrosis Ferret Model Enables Visualization of CFTR Expression Cells and Genetic CFTR Reactivation.

Hum Gene Ther

January 2025

Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.

Cystic fibrosis (CF) is caused by mutations in the (). While gene therapy holds promise as a cure, the cell-type-specific heterogeneity of expression in the lung presents significant challenges. Current CF ferret models closely replicate the human disease phenotype but have limitations in studying functional complementation through cell-type-specific CFTR restoration.

View Article and Find Full Text PDF

The Association of TSLP and IL-4 with Patient-Reported Outcome Measures in Chronic Rhinosinusitis with Nasal Polyps.

Am J Rhinol Allergy

January 2025

Division of Otolaryngology - Head & Neck Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Background: Thymic stromal lymphopoietin (TSLP) plays an important role in mediating the type-2-inflammatory response. This study examined how TSLP and interleukin (IL)-4 levels in patients with chronic rhinosinusitis with nasal polyps (CRSwNP) correlated with clinical and postoperative outcomes.

Methods: Solid-phase sandwich ELISA was used to analyze TSLP and IL-4 levels in mucus (n = 47), plasma (n = 17), polyp (n = 30), inferior (n = 25), and middle (n = 26) turbinate tissue collected during functional endoscopic sinus surgery (FESS) in CRSwNP patients (n = 76) and controls (n = 11).

View Article and Find Full Text PDF

Preterm infants are at high risk of developing respiratory distress syndrome (RDS). Mutations in the genes encoding for surfactant proteins B and C or the ATP-binding cassette transporter A3 (ABCA3) are rare but known to be associated with severe RDS and interstitial lung diseases. The exact prevalence of these mutations in the general population is difficult to determine, as they are usually studied in connection with clinical symptoms.

View Article and Find Full Text PDF

Want 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!