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 precautions need to be taken for people suffering from cystic fibrosis. Test your knowledge about cystic fibrosis through this short quiz.