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Transcript of Cystic Fibrosis
- one of the most common recessive genetic diseases
- 1 every 3,000 births
- Causes: mutation in cystic fibrosis transmembrane conductance regulator (CFTR)
- thick and sticky mucus builds up in body organs like lungs and pancreas
- Effects: difficulty in breathing and digestive problems
- Life expectancy is rising
CFTR Cell Signaling Pathway
- receptor: beta-2 adrenergic receptor
- ligand: an agonist
Adenulate cyclase - stimulated
Increase in cAMP.
Phosphorylation of CFTR by PKA disrupts the complex and leads to compartmentalized and opened CFTR channel
Correct vs. Faulty Mechanism
- Channel is opened
- Chloride ions + water move out of cell
- Control mucus production
- Channel is blocked
- Water cannot move out
- Error in mucus production: builds up -> block airway and damage organs
Direction of Research
- No cure of Cystic Fibrosis
- Prevents dehydration