What does F508 mean?
The most common CF-causing mutation, the deletion of phenylalanine 508 (F508), is located in the N-terminal cytoplasmic NBD1 (5–9). This single amino acid deletion results in a dramatic reduction of mature, plasma membrane resident CFTR.
What causes the F508 mutation?
The most common mutation in the gene associated with cystic fibrosis (CF) causes deletion of phenylalanine at residue 508 (delta F508) of the gene product called CFTR. This mutation results in the synthesis of a variant CFTR protein that is defective in its ability to traffic to the plasma membrane.
What is Ivacaftor used to treat?
Ivacaftor is used to treat certain types of cystic fibrosis (an inborn disease that causes problems with breathing, digestion, and reproduction) in adults and children 4 months of age and older. Ivacaftor should be used only in people with a certain genetic make-up.
What causes F508del?
The deletion of a phenylalanine at residue 508 (F508del) is the most common cause of CFTR misfolding leading to the disease. The F508del misfolding originates in the first nucleotide-binding domain (NBD1), which induces a global conformational change in CFTR through NBD1’s interactions with other domains.
What is the F508del mutation?
The most common CF mutation, F508del, is primarily considered to be a processing mutation. The F508del mutation removes a single amino acid from the CFTR protein. Without this building block, the CFTR protein cannot stay in the correct 3-D shape.
Who can take ivacaftor?
The U.S. Food and Drug Administration (FDA) today approved ivacaftor (Kalydeco®) for people ages 2 and older who have at least one of 23 residual function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Who is eligible for ivacaftor?
Ivacaftor is a new medicine that works differently and targets the production of the thick sticky mucus that causes many of the problems in CF. It is available to all patients, aged 6 years and older, with cystic fibrosis who have a certain type of faulty gene, called G551D mutation.
How do you know if you have cystic fibrosis gene?
The only way to know for sure if you are a cystic fibrosis carrier is to get genetic testing for CF. This is done by taking a blood sample or cells from your cheek, and then sending it out to a lab for DNA testing.
How many people have the F508del mutation?
F508del is the most common of the more-than 1,400 CF mutations. Around 90% of the UK CF population carries at least one copy, and around 50% carries two.