What is Cystic fibrosis?

What is Cystic fibrosis?

• A. Mutation in the CFTR gene; affects lungs and mucus production
• B. Mutation in the BRCA1 gene; affects breast tissue
• C. Mutation in the CFTR gene; has no effect on lungs
• D. Mutation in the CFTR gene; improves mucus clearance

Answer: (A)

Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene, which encodes a chloride channel in epithelial cells. When CFTR doesn't work properly, chloride and water transport are disrupted, leading to thick, sticky mucus in the lungs and airways. That thick mucus fosters infections and makes mucus clearance inefficient, causing persistent lung problems and also affecting other organs like the pancreas. It’s inherited in an autosomal recessive pattern, so two defective copies are needed to develop the disease. The description that matches these features is a mutation in the CFTR gene that affects lungs and mucus production. The other choices refer to a different gene or claim no effect or an improvement in mucus clearance, which doesn’t align with how CF leads to lung disease.

Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene, which encodes a chloride channel in epithelial cells. When CFTR doesn't work properly, chloride and water transport are disrupted, leading to thick, sticky mucus in the lungs and airways. That thick mucus fosters infections and makes mucus clearance inefficient, causing persistent lung problems and also affecting other organs like the pancreas. It’s inherited in an autosomal recessive pattern, so two defective copies are needed to develop the disease. The description that matches these features is a mutation in the CFTR gene that affects lungs and mucus production. The other choices refer to a different gene or claim no effect or an improvement in mucus clearance, which doesn’t align with how CF leads to lung disease.