CFTR (Cystic Fibrosis Transmembrane Regulator)

Question 1

Macromolecule

Answer 1

Membrane bound protein (chloride channel); More than 2500 mutations (range in severity); Most common is F508del.

Question 2

Organelle

Answer 2

Mutated protein sometimes reaches cell surface; sometimes target for degradation (depends on mutation).

Question 3

Cell

Answer 3

Less functional/no chloride channels at cell membrane. Other channels don’t work properly.

Question 4

Organ/Organ Systems

Answer 4

Mucus build up in lungs; salty sweat; lack of pancreatic enzymes

Question 5

Organism

Answer 5

Coughing; poor growth; lung infections; early death

Question 6

Population

Answer 6

1/20 carriers (European descent) (Very high incidence) One idea; decrease severity in cholera???