this site won't let me attach power points so here it is in word form!
.The main symptoms of CF are related to an abnormal gene located within exocrine glands (lungs, liver, pancreas, skin digestive tract and reproductive organs). This gene is referred to as CFTR.
.CFTR (cystic fibrosis transmembrane conductance regulator) is a gene that regulates ion transport within the cells of the body. In CF patients this gene does not function properly. This defect prevents the transport of Cl and Na out of cells. This imbalance of ions causes dehydration of the airways in the lungs leading to thick, sticky mucus that is hard to cough out. This thick mucus also leads to an impaired pancreatic, liver and reproductive function.
.In order for a person to have CF they must inherited two mutations, one from each parent. There are over 1,000 different mutations that cause CF. 5 different types of mutation classes have been identified, a picture of each class is on the back.
.Over 70% of patients with CF have the mutations delta f508. CFTR mutations can result in different disease forms. Some may have little or no effect on CFTR function, causing milder forms of disease. Although siblings with the same mutations can have very different forms of the disease. This is because CF is influenced by environmental factors and genetic factors other than CFTR; other ion transport channels within the body.
.Over the past several years research has focused on inhibiting or altering the CFTR gene.
.New drugs are being developed to affect the function of the CFTR gene. Several are already in the clinical phase trials.
.Some studies have suggested that a minimal amount of functional CFTR genes (5%-30%) could be enough for normal electrolyte transport. Meaning that minimal stimulation of the CFTR gene may hydrate the airways enough for normal mucus clearance.
