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amykay1965
09-15-2012, 10:25 PM
I have a 19 year old daughter with CF. Her mutations are Delta F508 & V520F. We had CF Education day today and were given the website to look at the different mutations. Although I looked at the V520F, I still don't understand what type of mutation this is and if any of the new drugs might benefit my daughter. My very basic non-dr understanding is that for Delta F508 you need a drug to make the CFTR and then the Kalydeco to open the gate for the CFTR. What about for the V520F?

kyeev
09-21-2012, 06:35 PM
I have a 19 year old daughter with CF. Her mutations are Delta F508 & V520F. We had CF Education day today and were given the website to look at the different mutations. Although I looked at the V520F, I still don't understand what type of mutation this is and if any of the new drugs might benefit my daughter. My very basic non-dr understanding is that for Delta F508 you need a drug to make the CFTR and then the Kalydeco to open the gate for the CFTR. What about for the V520F?


DeltaF508 is a mutation that is halted by cell quality control and the majority of the protein never makes it to the cell membrane where it is supposed to function.
So DF508 mutants needs a drug to force them past cell quality control and on towards the cell membrane.
This is what VX809 does, forces the DF508 mutant to the cell membrane, a corrector.

V520F, best guess for this mutation is that its most likely a class III protein that makes it to the cell membrane but does not function correctly.
Kalydeco may exert some effects on this mutation but because there is no data in the literature, it is unknown whether V520F is a true gating mutant.
This is what kalydeco (VX770) does, forces defective gating mutants to conduct chloride/water, a potentiator.

EDIT: Just read Kalydeco/ivacaftor monotherapy has no effect on V520F.