What are CF modulators?
What are CF modulators?
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are a class of drugs that act by improving production, intracellular processing, and/or function of the defective CFTR protein.
How do CF drugs work?
Kalydeco (Ivacaftor), a CFTR modulator known as a potentiator, binds to the defective protein at the cell surface and opens the chloride channel (holds the gate open) so that chloride can flow through, regulating the amount of fluids at the surface of the cell.
What are the modifier genes for cystic fibrosis?
The best-studied CF candidate modifiers include mannose-binding lectin, glutathione-S-transferase, transforming growth factor-beta1, tumor necrosis factor-alpha, beta2-adrenegic receptor, and HLA class II antigens.
How does CFTR corrector work?
Correctors. The next type of CFTR modulator A small molecule which binds to CFTR and improves its ability to function properly. is called a “corrector.” Correctors help the CFTR protein to form the right 3-D shape so that it is able to move — or traffic — to the cell surface.
What function corrector molecule has in the personalized treatment of CF?
A CF corrector is defined as a chemical chaperone that increases cell-surface levels of F508del-CFTR. A series of CF correctors have been developed, and VX-809 (lumacaftor) has been cited as the most effective symptomatic CF corrector to date.
What is CF drug?
The FDA has approved these medications for treating CF in people with one or more mutations in the CFTR gene: The newest combination medication containing elexacaftor, ivacaftor and tezacaftor (Trikafta) is approved for people age 12 years and older and considered a breakthrough by many experts.
What does the new CF drug do?
Kaftrio, described by patient groups as a ‘revolutionary drug’, is a triple combination treatment combining three drugs which perform different functions – ivacaftor, tezacaftor and elexacaftor – and tackles the underlying causes of the disease, by helping the lungs work effectively.
Is CF a recessive gene?
Cystic fibrosis is an example of a recessive disease. That means a person must have a mutation in both copies of the CFTR gene to have CF. If someone has a mutation in only one copy of the CFTR gene and the other copy is normal, he or she does not have CF and is a CF carrier.
What is the most common CF mutation?
The deletion of the phenylalanine 508 (ΔF508-CFTR) is the most common mutation among cystic fibrosis (CF) patients. The mutant channels present a severe trafficking defect, and the few channels that reach the plasma membrane are functionally impaired.
How many different mutations cause CF?
Scientists have found more than 1,700 different mutations in the CFTR gene that can cause CF.
