Cystic fibrosis (CF) is a common life-limiting autosomal recessive genetic disorder that affects the lungs and the digestive system. In the UK, one in 2500 white new-borns suffers from cystic fibrosis. CF is caused by a genetic mutation in a gene on chromosome 7 that codes for a protein transmembrane conductance regulator (CFTR) protein which functions as a transmembrane cAMP-activated chloride channel. Both copies of the gene are mutated in clinical disease.
The most common mutation is delta F508 which is found in 70% of American Caucasian CF patients and two-thirds of all cases worldwide. This mutation is a class 2 mutation of abnormal folding of the CFTR protein, leading to premature destruction within the Golgi apparatus. The delta F508 mutation commonly leads to exocrine pancreatic insufficiency and a higher likelihood of meconium ileus. Various diagnostic tests and dietary…
