BIMM 110 Lecture Notes - Lecture 14: Nonsense Mutation, Tobramycin, Safety Data Sheet
25 Feb 2017
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Document Summary
The airway surface liquid (asl), often referred to as mucus, is a thin layer of fluid covering the luminal surface of the airway. The major function of mucus is to protect the lung through mucociliary clearance against foreign particles and chemicals entering the lung. As cilia beats, mucus layer moves carrying along trapped particles. Cilia is bathed in watery fluid, mucus layer floats on top. A splicing defect in this gene will decrease the amount of cftr on the cell surface. Premature stop codons prevent full translation of the mrna, which is truncated and not functional never reaching the cell surface. The most common mutation would be the defective trafficking in which the proteins are misfolded and maintained in the endoplasmic reticulum to be degraded, as a result, few. In the airway of patients diagnosed with cystic fibrosis, chloride secretion is absent and sodium is hyperabsorbed. These defects in ion transport lead to depletion of asl (airway surface liquid).
