Date of Award
Dr. Tracey L. Bonfield
The following literature review provides an account in support of the premise that the cystic fibrosis (CF) disease affects widespread areas of the body primarily due to the defective CFTR protein. Mutations in the CFTR gene lead to defects in CFTR protein that causes the disease. Lack of protein function or lack of functional protein cause variability in severity of the phenotype. The defective CFTR protein changes ion influx and efflux across the body’s cell membranes, which ultimately changes the internal environment of these cells. This change contributes to each cell’s production of proteins through transcription and translation. The simple changes in ion movement in and out of these cells have detrimental effects on the overall function of the cells. The cells create a system for maintenance of the body’s health, and if the cells do not function appropriately, the body fails to manage viral and bacterial infections. In this review, I will discuss how the defective CFTR channel works in the cells of the bodies of CF patients, and explain why the normal CFTR channel is essential for proper health and maintenance of the human body. In addition to the CFTR channel, other factors affect the severity of the disease. Genome-wide association studies explore other factors attributed to CF, including environmental factors, modifier genes, transcriptional regulation factors, and post-translational modifications. Potentiators and correctors target the CFTR channel in order to increase CFTR function, working alongside therapies in order to combat the effects of defective channels in CF patients.
Rao, Preeti, "Cystic Fibrosis Impact on Cellular Function" (2014). Senior Honors Projects. 51.