Cystic Fibrosis

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  1. CFTR acts as a channel that transports
    • chloride ions¬†
    • bicarbonate
    • ATP
  2. what are the five functional regions of the CFTR
    • 2 transmembrane domains TMD1 & TMD2
    • 2 nucleotide-binding domains NBD1 & NBD2
    • 1 regulatory domain
  3. what is the most common mutation in CF patients
    delta F508
  4. deletion of three base pairs of the CFTR gene leads to the loss of which amino acid
  5. CFTR facilitates the transport of ATP outside of the cell and activates which channels
    • ORCC
    • CaCC
  6. CFTR regulates the function of which ion channels
    • ENaC
    • ORCC
    • chloride/bicarbonate exchange
    • CaCC
  7. what is a class 1 mutation
    defective protein production with premature termination of CFTR production
  8. what is a class 2 mutation
    defective trafficking of CFTR so it does not reach the apical surface
  9. what is a class 3 mutation
    defective regulation even though it is able to reach the surface
  10. what is a class 4 mutation
    CFTR reaches the surface but chloride transport through the channel is defective
  11. what is a class 5 mutation
    reduced production of functional CFTR. A small amount of functional CFTR may reach the surface
  12. what is the Na Cl  flow in normal and dysfunctional CFTR in the sweat glands
    • normal: Na and Cl go into the cell
    • dysfunctional: Na and Cl reabsorption is prevented
  13. what is the Na Cl flow in normal and dysfuntional CFTR in the lungs
    • normal: Na goes in and Cl goes out
    • dysfunc: Na goes in and Cl reabsorption is prevented (Na and Cl is retained)
  14. PKA actives what channels
    • ENaC
    • Na/K ATPase
    • CFTR
  15. what role does PKC play in CFTR
    helps increase the responsiveness of CFTR channels to phosphorylation of PKA specifically within the R domain
  16. what is the role of the R domain
    divides the CFTR channel into halves and regulates the opening and closing of the channel via phosphorylation by PKA and PKC
  17. what is the primary site of lung injury in CF patients
    bronchioles leading to bronchiectasis
  18. potentiators of defective CFTR
    • VX770
    • ivacaftor (Kayldeco)
  19. correctors of defective CFTR
    VX809 Lumacaftor (phase II trials)
  20. suppressors of defective CFTR
    • PTC124 Ataluren
    • aminoglycosides
Card Set:
Cystic Fibrosis
2013-12-05 08:15:31
Dr Olaleye
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