Membranes Flashcards
0
Q
Cystic fibrosis transmembrane-conductance regulator
A
CFTR involved in Cl- exit and secretion
Majority of CFbcases caused by mutation leading to deletion of single Phe amino acid –> protein misfolds and fails to traffic to the apical membrane
1
Q
PGlycoprotein
A
Genetic variation in expression of PGlycoprotein –> drug efficacy
Gene profiling of patients allows tailoring of drug prescribing
2
Q
Heart failure
A
Disturbed protein localisation. Organisation of proteins is tightly controlled, almost crystalline, in heart failure there is no regular array of calcium channels despite the channels being present, lack of arrangement –> no communication. No mutation in calcium channel yet tightly associated with disease –> mutation in scaffolding protein
