One of the most common genetic inherited diseases in America is Cystic Fibrosis CF CF is a chronic disease that affects the

Question

One of the most common genetic inherited diseases in America is Cystic Fibrosis CF CF is a chronic disease that affects the lungs and digestive systems for which there currently is no cure Every person has two copies of the CFTR Cystic Fibrosis Transmembrane conductance Regulator gene one from each parent For a person to have CF both parents must be carriers of mutated CFTR The CFTR gene contains the instructions for making the CFTR protein which is produced in many organs among them the lungs and the pancreas The CFTR protein creates channels in the cell membrane to allow the movement of chloride ions in and out of the cell When the CFTR protein functions properly the balance of chloride and fluid at the cell surface remains normal The mutated version of the CFTR gene causes the CFTR protein to malfunction leading to a buildup of thick mucus especially in the lungs This leads to lung infections and eventually respiratory failure caused by a microbial biofilm Pseudomonas aeruginosa is especially problematic in CF patients Scientists have found more than 1 700 different mutations in the CFTR gene that can cause CF which accounts for the fact that this genetic disease is so common The FDA recently approved the drug Ivacaftor for treatment of splice mutations in CFTR but people with these types of mutations make a small amount of normal CFTR Ivacaftor forces the gate on the normal CFTR protein to stay open for longer so that the channels can function with a reduced amount of CFTR protein in the membrane 1 Explain how a nonsense mutation in CFTR gene can cause CF 2 What would be the effect of a mutation in the intron of the CFTR gene 3 Speculate on the role of Ivacaftor in the treatment of CF

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