Cystic Fibrosis: Investigating CFTR Gene Defects and Their Impact

This report examines the CFTR gene and its crucial role in the development of cystic fibrosis. It explains how the CFTR gene regulates the production of a protein that acts as a chloride channel, affecting the movement of chloride ions and water in the cells. The report details the impact of mutations in the CFTR gene, leading to the production of thick and sticky mucus, which causes respiratory and digestive problems. The report highlights the most frequent mutations, including DeltaF508, G542X, N1303K, W1282X, and G551D, and explains how these mutations disrupt the normal functioning of the CFTR protein. It also provides insights into the implications of these defects on the health of individuals with cystic fibrosis and the challenges related to treatment. This report is a valuable resource for understanding the genetic basis of cystic fibrosis and the various ways in which it impacts human health.

Running head; CFTR GENE 1
CFTR Gene and its Defects
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CFTR gene 2
Cystic fibrosis is a disease caused by the mutation of cystic fibrosis transmembrane
conductance regulator (CFTR). The gene is responsible for the production of a membrane protein
and also acts as a chloride channel across the membranes of cells that produce digestive
enzymes, mucus, tears, saliva and sweat. Transportation of negatively charged chloride ions in
and out of cells aids in controlling water movement in tissues which helps to produce thin and
freely flowing mucus. Normal mucus is slippery and it is used as a lubricant in the lining of
various organs and tissues in the body such as the digestive system, airways, the reproductive
system as well as other body tissues and organs. In addition the CFTR protein also regulates
transportation of positively charged sodium ions across cell membranes which aid normal
functioning of lungs, pancreas and other organs (Thursfield and Davies 2012).
Mutations in the CFTR gene cause little or no production of CFTR protein which affects
its cell functions. Defects in the CFTR protein alters the balance of chloride ions in the cells
which cause production of thick and sticky mucus in various surfaces. This causes infection in
vital body organs such as lungs leading to respiratory difficulties, problems in the digestive
system and poor digestion. The main types of mutations in the CFTR gene include; protein
production, processing, gating, conduction and insufficient protein mutations. Most of the
identified mutations are not frequent. The most frequent mutations include the DeltaF508,
G542X, N1303K, W1282X and G551D. The DeltaF508 occurs due to deletion of 3 nucleotides
causing loss of phenylalanine amino acid. The defect affects folding of the protein which causes
loss of chloride ions out of the cells. In some cells, too much water is retained in the cells while
the external surfaces remain abnormally dry leading to thickening of mucus and the consequent
blocking of thin airways (Mondejar-Lopez, Pastor-Vivero, Sanchez-Solis and Escribano 2017).
References

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Mondejar-Lopez, P., Pastor-Vivero, M. D., Sanchez-Solis, M., & Escribano, A. (2017). Cystic
fibrosis treatment: targeting the basic defect. Expert Opinion on Orphan Drugs, 5(2),
181-192.
Thursfield, R. M., & Davies, J. C. (2012). Cystic fibrosis: therapies targeting specific gene
defects. Paediatric respiratory reviews, 13(4), 215-219.