W1 6501 1Discussion: Alterations in Cellular Processes At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.

Alterations in Cellular Processes-Cystic Fibrosis

The patient is potentially suffering from cystic fibrosis (CF) and can be treated better by first understanding the pathophysiology of CF. CF is a genetic disorder. CF develops as a result of functional defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein due to genetic alterations (de Boeck, 2020). CFTR regulates the ATP-binding cassette (ABC) transporter, which controls the movement of chloride ions in and out of cells in the apical membrane of epithelial cells in the lungs and other body parts (Sergeev et al., 2020). The movement of the chloride ions out of the cells attracts sodium ions through the cell membranes. This process regulates the flow of water to the exterior of the epithelial cells (Brewington et al., 2018). Therefore, CFTR functions to ensure that the epithelial cells are hydrated and the layer of mucus on the cells remains thin. The thin mucus layer is easier to form in the passages of the lungs.

There are many types of identified CFTR protein mutations. However, all mutations alter gene structure, resulting in the wrong replication of the ribonucleic acid (RNA) during the CFTR protein formation (Banks). Consequently, this leads to CFTR mutations resulting in short CFTR protein production, low CFTR on the cell surface, unregulated CFTR cell membrane gating functions, reduced chloride conduction, and insufficient CFTR protein. The result of the mutations is an improper functioning of CFTR. Water flow on the cell exterior is inhibited, leading to harder-to-clear thickened and rehydrated mucus on the epithelial cell surfaces. This clogs the lungs and creates a niche for bacterial growth, excessive presence of neutrophils, and increased cell inflammation (Bezzerri et al., 2019). The excess bacterial development and neutrophil presence lead to subsequent CF clinical manifestations.

Every CF patient has inherited two copies of the mutated CFTR gene from either parent (Rang et al., 2020). Based on this understanding, the mother can have another child, provided that the other parent is not a CF patient or a CF carrier.

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References

Bezzerri, V., Piacenza, F., Caporelli, N., Malavolta, M., Provinciali, M., & Cipolli, M. (2019). Is cellular senescence involved in cystic fibrosis? Respiratory Research, 20(1). https://doi.org/10.1186/S12931-019-0993-2