cftr protein การใช้

• G551D is characterized by a dysfunctional CFTR protein on the cell surface.
• The presence of the same CFTR proteins in pancreatic duct and skin cells also cause symptoms in these systems.
• In CF patients, defective CFTR protein causes a salt buildup, leading to an abnormally thick mucus, infection, inflammation and progressive lung damage.
• Cystic fibrosis is caused by any one of several defects in the CFTR protein, which regulates fluid flow within cells and affects the components of sweat, digestive fluids, and mucus.
• Transferring the normal " CFTR " gene into the affected epithelium cells would result in the production of functional CFTR protein in all target cells, without adverse reactions or an inflammation response.
• In most exocrine glands, the CFTR protein normally secretes chloride ions into the lumen, and also has a tonic inhibitory effect on the opening of the apical sodium channel ( which absorbs sodium into the cell ).
• "' Lumacaftor "'( "'VX-809 "') is a pharmaceutical drug that acts as a chaperone during protein folding and increases the number of CFTR proteins that are trafficked to the cell surface.
• Cells expressing a mutant form of the CFTR protein are resistant to invasion by the " Salmonella typhi " bacterium, the agent of typhoid fever, and mice carrying a single copy of mutant CFTR are resistant to diarrhea caused by cholera toxin.
• Cystic Fibrosis ( CF ) is a disease resulting from a failure to maintain the level of cystic fibrosis transmembrane conductance regulator ( CFTR ), which functions as a chloride channel in pulmonary tissues . ?F508 point mutation in CFTR protein interferes with maturation of the protein has been found in a number of CF patients.
• "' Lumacaftor / ivacaftor "'( brand name "'Orkambi "') is a combination drug available as a single pill that is used for the treatment of cystic fibrosis in people who have two copies of the chaperone during protein folding and increases the number of CFTR proteins that are trafficked to the cell surface.