What is 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 the most common CFTR 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.
Why is the cystic fibrosis delta F508 mutation so common in Europe?
We therefore propose that the high frequency of the CFTR gene, and in particular, the common Delta F508 allele mutation in current European and European-derived populations might be a consequence of the impact of selective pressures generated by the transmission of pathogenic agents from domesticated animals, mainly …
What is the problem with the mutated CFTR gene?
Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky.
How is the CFTR gene mutated?
The most common CFTR mutation, present in approximately 70 percent of people with CF, is F508del. This mutation is caused by the deletion of three base pairs of the CFTR gene leading to the loss of an amino acid called phenylalanine, abbreviated F, in the CFTR protein.
Is the CFTR gene dominant or recessive?
CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive .
How common is CFTR gene?
All people have two copies of the CFTR gene, and there must be mutations in both copies to cause CF. More than 1,700 mutations of the CFTR gene have been identified. Although some are common, others are rare and found in only a few people.
Why is cystic fibrosis more common in Europeans?
Cystic fibrosis is most common in Caucasians of northern European descent. People of other ethnicities can get the disease, too. CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). When you are diagnosed with CF, it means you have two defective CFTR genes.
What happens when the CFTR protein is mutated?
Mutations in the CFTR gene disrupt the function of the chloride channel, preventing the usual flow of chloride ions and water into and out of cells. As a result, cells in the male genital tract produce mucus that is abnormally thick and sticky.
What causes the CFTR mutation?
This mutation is caused by the deletion of three base pairs of the CFTR gene leading to the loss of an amino acid called phenylalanine, abbreviated F, in the CFTR protein. Everyone receives one copy of the CFTR gene from each parent.