Question 1: Explain the pathophysiologic defect of Cystic Fibrosis.
A mutation of a single gene, on chromosome 7, leads to the disease, cystic fibrosis. The gene is responsible for encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The normal CFTR is a regulator of chloride channels, which can lead to the regulation of chloride and sodium channels on the surface of the cell. The most common mutation leading to an abnormal CFTR is a mutation is delta F508. The disease can have different phenotypic manifestations depending on the extent of the mutation. The differences in chloride transduction leads to abnormal secretions in various organs, such as the lungs leading to ...