CF

Question 1

How many nucleotides in the CFTR gene?

Answer 1

6500 nucleotides long

Question 2

Chromosomal position of CFTR?

Answer 2

7q31.2

Question 3

Number of CFTR exons

Answer 3

24

Question 4

Size of CFTR protein?

Answer 4

158kDa

Question 5

How many people does it affect worldwide?

Answer 5

70,000

Question 6

Where are cells affected?

Answer 6

Lungs, trachea, pancreas and salivary glands

Question 7

Class I mutations

Answer 7

Absence of protein

Question 8

Class II mutations

Answer 8

Misfolding of proteins which leads to near absence in the membrane

Question 9

Class III/IV mutations

Answer 9

Reduced conductance

Question 10

Class V mutations

Answer 10

Functional channels but underexpressed

Question 11

Class VI mutations

Answer 11

Affect channel stability to anchor to membrane

Question 12

Function of ivacaftor

Answer 12

CFTR corrector, increase channel open probability, therefore conductance which increases lung function

Question 13

Function of tevacaftor

Answer 13

Aids protein trafficking

Question 14

Function of elexacaftor

Answer 14

Increases the amount of CFTR at the membrane

Question 15

How does the F508del mutation affect protein function

Answer 15

Causes instability of the NBD1 and the fourth cytosolic loop of MSD1, which anchors the protein to the membrane