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Which human gene is most commonly mutated in cystic fibrosis?
Quick Answer
CFTR is the gene most commonly linked to cystic fibrosis. The most common mutation in many populations is F508del, also written ΔF508.
The Full Story
Cystic fibrosis is caused by mutations in the CFTR gene, which helps control the movement of salt and water in cells. The most common disease-causing mutation in people of European ancestry is F508del, a deletion of one amino acid in the CFTR protein. This mutation leads to thick mucus in the lungs and digestive system. Since the 1990s and 2000s, targeted CFTR-modulator drugs have dramatically improved outcomes for many patients.
Key Facts
1.CFTR mutations cause cystic fibrosis
2.F508del is the most common mutation in many populations
3.CFTR affects salt and water transport
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"One gene mutation can turn mucus from helpful to harmful."
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