The National Library of Medicine (NLM) is a professional and scientific literature search engine. The NLM inclusion is not a recommendation but of the National Library of Medicine or the National Institutes of Health. Proteins are the cellular machines, constructed according to information found in the DNA. They are composed of 20 different amino acids assembled in different combinations such as words based on the same alphabet.
The amino acids that make up every protein are specified by the DNA Cystic fibrosis (CF) is a genetic disorder that is caused by the alteration in the production of the proteins, their shape and transportation around the cell, their recycling, or their channel. This condition causes the viscous of the mucus and digestive fluids to clog the tracts and ducts as in the lungs and the pancreas. If you need more interested info like that visit quick guider.
The CFTR gene is the gene that codes for CF transmembrane conductance regulator CFTR protein, the channel protein across cell membranes in mucus, sweat, saliva, and digestive enzyme-producing cells. This channel is used to regulate the flow of chloride ions and hence adequate transportation of water in tissues and thin mucus formation.
In cystic fibrosis, the CFTR is damaged; therefore, chloride and bicarbonate cannot be transported and mucus is thick and viscous rather than lubricating fluid. Since it was discovered in 1989, the CFTR gene, which is located on the chromosome 7, has been intensively studied, and there are now more than 2,500 mutations identified.
Basics of the CFTR Protein
Cystic fibrosis is a resultant condition of the failure to create the normal CFTR protein which is a chloride ion transporter, or a no production of said protein altogether. The protein, which contains 1,480 amino acids, plays a key role in balancing the water and salt level, responsible of mucus production and the movement of other substances such as the bicarbonate and antioxidants.
Disruption in the functioning of CFTR protein causes thickening of the mucus, slow mucociliary clearance, chronic severe infections and respiratory failure, and exocrine pancreatic malfunctioning. A clear understanding of the working of this protein has enabled scientists to develop some treatment that heal the malfunction of the protein.
What Does the CFTR Protein Do?
The protein CFTR is an ion channel, through which charged particles such as chloride ions are transferred in and out of the cells, helping in controlling tissue water rates in the body, which is necessary in mucus manufacture and pH balance in the body. Once in the lung, the chloride ions take in the water and the hair like structures called cilia, move material out of the airways, protecting the respiratory system. If you need info related How to start freelancing in Pakistan.
Cystic fibrosis transmembrane conductance regulator also controls other ion channels as well as assists in antioxidant defences through permeating glutathione. Failure to work properly can cause cystic fibrosis, thick mucus and chronic infections, respiratory failure, and pancreatic insufficiency.
How Do Problems With the CFTR Protein Cause CF?
In individuals with cystic fibrosis (CF), the gene that encodes the CFTR protein, CFTR, is mutated so that instead of making an effective, adequate, or even any normal protein, defective CFTR is formed. This inhibits the movement of chloride ions out of the cells, decreasing the amount of water outside the cells and resulting in the formation of thick, mucous plugs that block airways and flatten the cilia making it hard to get rid of the mucus and the germs.
This means that people with CF get recurrent lung infections, breathing complications, and problems with digestion because their lungs and pancreas have mucus filling the lung and other body organs. These complications are due to the fact that CFTR protein is unable to coordinate fluid homeostasis and results in severe health problems.
Researchers Are Still Studying the Basic Structure
This continues to be a research focus as scientists work to understand more about the makeup of the CFTR protein in order to be able to identify new and more effective methods of restoring effective workings of the protein in those individuals who have CF. This diagram shows a typical recent image of the structure of a full-length CFTR protein (shown in green) created by the laboratory of Jue Chen, Ph.D., who holds the William E. Ford professorship at Rockefeller University in New York City. Due to this high complexity of CFTR structure, only in early 2017, high-resolution images were produced.
These images have provided scientists with valuable information on the binding locations of drugs to the protein, how this binding interferes with protein functionality, and how new CF treatment medications can be invented.
Conclusion
Knowledge of the CFTR protein and its malfunction in cystic fibrosis has played a key role in defining the manner in how it could be restored to working fully through developing therapeutic measures. The cause of CF is the mutation of the CFTR gene that results in the dysfunctional protein and impairs the transport of chloride ions, leveling to the thickening of mucus and the severe medical conditions.
Although much has been done in the study of the CFTR protein, current research continues to unearth new information about its structure and functions that hold the potential to new and better CFTR-based therapies. Increase in the imaging and molecular studies gives hope that in the future there will be better treatment of cystic fibrosis. And for further details on how to apply online using Visa in Pakistan visit this page.
FAQS
What amino acid is affected by cystic fibrosis?
The most common mutation in cystic fibrosis affects the amino acid phenylalanine at position 508 (F508). This mutation causes the CFTR protein to fold incorrectly and not work properly.
How does cystic fibrosis affect protein function?
Cystic fibrosis changes the CFTR protein, which normally moves chloride ions in and out of cells. When the protein is defective or missing, it causes thick mucus buildup in the lungs, pancreas, and other organs.
How will amino acid deletion affect the structure of the CFTR protein?
Deleting an amino acid, like phenylalanine-508, can cause the CFTR protein to fold incorrectly. This prevents it from reaching the cell surface or working proper.