Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2,000 different mutations have been identified in the CFTR gene, but the most common mutation that causes cystic fibrosis is called ΔF508.
This mutation involves a deletion of three nucleotides in the CFTR gene, resulting in the loss of a phenylalanine amino acid at position 508 of the CFTR protein. This protein plays an essential role in the transport of chloride ions across cell membranes. The ΔF508 mutation impairs the function and processing of the CFTR protein, leading to the production of a defective protein that is not properly transported to the cell surface and unable to function normally.
Other less common mutations in the CFTR gene can also cause cystic fibrosis, but ΔF508 accounts for approximately 70% of CFTR gene mutations in people with cystic fibrosis.
What type of mutations result in cystic fibrosis
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