Cystic Fibrosis (CF) is the most common genetic disease among white European populations, affecting 1 in 2500 babies born in the UK. CF results from defects in the CF transmembrane conductance regulator (CFTR) gene, which codes for a chloride channel expressed in epithelial cells of multiple organs, including the lungs and pancreas. CFTR is a multifunctional protein that regulates ion flux across cell membranes, with over 1000 mutations described, 1085 of which are CF-causing. Autosomal recessive genetic disease means that a person must inherit two defective copies of the CFTR gene to develop CF, while carriers have one normal and one mutated gene. Carrier status indicates an individual with one mutated CFTR gene, approximately 1 in 25 people in the UK, most unaffected. The median age of diagnosis is around 23 days, largely due to newborn screening programs.
1. What is the primary role of the CFTR protein in cystic fibrosis?
2. What key property of the CFTR protein is primarily responsible for maintaining proper mucus hydration in epithelial tissues?
3. Who is credited with proposing the G551D mutation as a target for CFTR potentiator therapy in cystic fibrosis?
CFTR gene — defect causes CF?
Yes, mutations impair chloride channel function.
Autosomal recessive — inheritance pattern?
Requires two mutated copies for disease expression.
Median age of CF diagnosis?
Approximately 23 days.
CFTR protein — role?
Regulates ion flux across epithelial cell membranes.
Thick mucus — consequence of CF?
Decreased ion and water transport.
Sweat chloride test — diagnostic?
Chloride >60 mmol/L confirms CF.
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