Primary nasal epithelial cells from patients with cystic fibrosis hold promise for guiding precision medicine and expanding treatment

In recent years, improving treatments for cystic fibrosis (CF) have dramatically enhanced the longevity and quality of life for people with CF. The pathogenesis of CF has been well characterised and has been directly linked to a dysfunctional chloride channel termed the cystic fibrosis transmembrane conductance regulator (CFTR), which is predominately found in epithelial tissue layers [1]. Until recently, most treatments for CF have focused on supportive care including enhanced airway clearance therapies, improved nutritional support, management of CF sequelae such as CF-related diabetes and liver disease, and/or treatment of pulmonary exacerbations with antibiotics [2]. These interventions have significantly improved life expectancy for people with CF, yet they do not address the underlying cause of the disease [3]. Since the identification of the CFTR gene, >2000 mutations have been identified, with at least 300 variants now known to be disease causing [4]. The most common mutation is the F508del variant, which in the homozygous situation leads to classical multi-systemic manifestations of CF. Importantly, additional disease-causing variants, either in combination with F508del or other significant disease-causing variants, contribute to the diversity of disease presentation, severity and outcomes. Significant progress in characterising the molecular consequences of CTFR mutations in recent years has led to the development of a classification system that correlates CFTR m...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research