The Impact of the S549N CFTR Allele on the Movement of Chloride Ions and Water Molecules
The S549N CFTR allele is a genetic mutation that affects the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, resulting in a protein that is made and transported to the cell surface, but the channel gate does not open properly. This mutation affects the movement of chloride ions and water molecules into and out of the cell, as it causes a decrease in chloride ion transport and a decrease in transepithelial water transport (Chamorro et al., 2017; Kielb et al., 2020). Specifically, the S549N CFTR allele results in a decrease in chloride ion transport across the cell membrane, as the improperly opened channel gate fails to allow chloride ions to pass through. This results in a reduction in the chloride ion concentration, leading to a decrease in the osmolarity of the extracellular fluid (Kielb et al., 2020). Furthermore, this decrease in chloride ion transport also affects the movement of water molecules, as the decreased osmolarity of the extracellular fluid causes a decrease in the osmotic gradient, reducing the movement of water molecules from the extracellular fluid to the intracellular space (Chamorro et al., 2017). Cont…
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