The Impact of the S549N CFTR Mutation on Chloride Ion and Water Movement
The S549N CFTR mutation is an autosomal dominant mutation of the CFTR gene. This mutation results in a CFTR protein that is made and moves to the cell surface, however, due to the alteration in its structure, the channel gate does not open properly (Jain et al., 2020). As a result, the movement of chloride ions and water molecules into and out of the cell is significantly affected (Mok et al., 2021). The channel gate in the CFTR protein is responsible for the movement of chloride ions and water molecules. When the channel gate is not functioning properly, the movement of chloride ions and water molecules is hindered. This results in a decrease in the number of ions and water molecules entering and exiting the cell (Kumar et al., 2019). This has far-reaching implications for the overall health of the cell, as the lack of chloride ions and water molecules can lead to dehydration, electrolyte imbalance, and other cellular malfunctions (Souffrant et al., 2016). Cont…
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