Lecture 06 - Cystic Fibrosis Flashcards
What is cystic fibrosis
an autosomal recessive genetic disorder
What is a rare way to get CF
get 2 mutations from one parent
What is the effected gene in CF
CFTR on chromosome 7
How many amino acids are in the CFTR protein
1480
What is the function of the CFTR protein
a chloride channel in the lungs, liver and GI systems
What is the most common mutation
the F508 mutation
What percent of people with CF have the Class I mutation
22%
What percent of people with CF have the Class II mutation
88%
What percent of people with CF have the Class III mutation
6%
What percent of people with CF have the Class IV mutation
6%
What percent of people with CF have the Class V mutation
5%
What percent of people with CF have the Class VI mutation
5%
What is the presentation of a normal CFTR
CFTR protein is created and moves to the cell surface allowing the transfer of chloride and water
What is the presentation of a Class I CFTR mutation
no functional CFTR protein is created
What is the presentation of a Class II CFTR mutation
CFTR protein is created but misfolds keeping it from moving to the cell surface (traffic defect)
What is the presentation of a Class III CFTR mutation
CFTR protein is created and moves to the cell surface but the channel gate does not open (defective regulation)
What is the presentation of a Class IV CFTR mutation
CFTR protein is created and moves to the cell surface but the channel is faulty (decreased channel conductance)
What is the presentation of a Class V CFTR mutation
Normal CFTR protein is created and moves correctly to the cell surface but not enough protein is made (reduce synthesis)
What is the presentation of a Class IV CFTR mutation
CFTR protein is created but it does not work properly at the cell membrane (decreased stability)
