Cystic Fibrosis

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Please read the case study and answer the 3 questions:

Case Study: Cystic Fibrosis and the Microbiome
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 Transmembraneconductance 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. How do genes direct the production of proteins like CFTR? (Hint: central dogma)

2. Explain how a nonsense mutation in CFTR gene can cause CF.

3. Why does the establishment of biofilms in the lungs of CF patients complicate the CF

treatment regimen?

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