Acquired cystic fibrosis transmembrane conductance regulator protein (CFTR) dysfunction and cigarette smoking

Abstract

Cystic fibrosis (CF) remains a prevalent genetically inherited disease in Caucasian
populations. Investigation of the respiratory symptoms which occur in patients with CF helps us
understand the pathophysiology of chronic lung disease. Environmental insults, such as cigarette
smoke, can reduce the cystic fibrosis transmembrane receptor (CFTR) function or expression
leading to an acquired CF phenotype and could contribute to the development and progression
of smoking-related lung disease. However, it is uncertain if the acquired CF phenotype can be
diagnosed with the same methods, such as the sweat chloride test and the measurement
of nasal potential difference, used for genetically-acquired CF. More studies are needed to
investigate the prevalence of acquired CFTR dysfunction and the differences between acquired
and genetically-inherited CFTR dysfunction. Overall, acquired CFTR dysfunction challenges
the distinction between genetic and acquired disorders, suggesting that environmental agents
may modulate the functions of genes and the increase risk for pulmonary disease.