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)
What is the F508 mutation
amino acid 508 is deleted which effects protein folding
What parts of the body are most effected by CF
sinuses, lungs, liver, pancreas, vas deferens
What is the gold standard test for diagnosing CF
the sweat chloride test
What sweat chloride results are negative for CF
</=29 mmol/L
What sweat chloride results are inconclusive for CF
30-59 mmol/L
