Cystic fibrosis (CF) is a common genetic disease that resultsfrom a defect in a
ID: 2078 • Letter: C
Question
Cystic fibrosis (CF) is a common genetic disease that resultsfrom a defect in a chloride transport protein. Patients afflictedwith CF have thickened mucus in the lungs, pancreas, and sweatglands.How does the chloride transport protein function in individualswithout the disease? How is this particular transport protein impaired inindividuals with cystic fibrosis? Cystic fibrosis (CF) is a common genetic disease that resultsfrom a defect in a chloride transport protein. Patients afflictedwith CF have thickened mucus in the lungs, pancreas, and sweatglands.
How does the chloride transport protein function in individualswithout the disease? How is this particular transport protein impaired inindividuals with cystic fibrosis?
Explanation / Answer
In healthy individuals, the transport protein functions just as anyother does... it serves the purpose of transporting items acrossthe cell membrane to and from the extra cellular matrix and thecytoplasam. In patients with CF, there are many mutations that can cause CF...but one in particular, F508 accounts for around two thirds ofthe CF cases... in this case the problem arises from a deletion ofa specific amino acid in the gene which leads to improper foldingof the protein.
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