Formation of thickened mucus in the lungs | Homework Help
Question: Cystic fibrosis (CF) is a genetic disease that leads to formation of thickened mucus in the lungs, pancrease, and other organs. In the lungs, the mucus impeads airflow and the removal of particulates leading to infection. These problems result in a decreased lifespan for those with CF.
Most people with CF have a mutation in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene that results in the deletion of the amino acid phenylalanine at position 508 in the primary sequence of the protein (F508del-CFTR).
What types of forces/bonds would likely be disrupted by the deletion of phenylalanine?
Question: Normal CFTR is a transmembrane protein that functions as a chloride channel in the plasma membrane. The mutant protein (F508del-CFTR) does not fold properly, because key molecular contacts are missing due to the absence of phenylalanine 508. Patients homozygous for the F508del-CFTR mutation do not express any normal CFTR. CF patients express the mutant F508del-CFTR protein, but only a very small amount is found in the plasma membrane.
In which subcellular organelles/locations would you expect to find the mutant F508del-CFTR protein? (you may choose more than one answer)
cytoplasm b mitochondria c rough ER d golgi e chloroplast f lysosome