CFTR Gene Transfer and Tracking the CFTR Protein in the Airway Epithelium

Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in a single gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This disease primarily involves epithelial cells of the respiratory system, intestine, pancreas, gall bladder, and sweat glands. Although several organs are affected, the main cause of CF mortality and morbidity is due to pulmonary complications associated with impaired clearance and obstruction by viscous mucus secretions, which makes the lung epithelial cells the principle target for CF treatment. A monogenic disease such as CF was a priori an ideal candidate for gene therapy, as treatment of the disease was thought to be feasible with the introduction of the normal alleles of the CFTR gene into the airway epithelial cells to code for the functional protein.