lecture 7 - redone Flashcards
what is CFTR
an anion channel that controls the amount of epithelial secretions (e.g ASL)
what is the most common mutation
f508del
what is class 1 mutation
G542X - no protein
what does the X is G542X represent
a stop mutation
class II mutation
f508del - no traffic
why does class II mutation not processed to the membrane
as the protein is misfolded
class III mutation
G551D - no function
what does the no function mutation cause
the channel doesn’t respond to normal queues that activates it (gating mutation)
class IV mutation
R117H - less function
cant conduct chloride and bicarbonate as well as the wild type
class V mutation
A455E - less protein
class VI mutation
rF508del - less stable
class VI mutation has a shorter half life because
it gets retrieved from the membrane earlier
other factors that affect lung disease
- single nucleotide polymorphisms (SNPs)
- air pollution
SNPs
alter the activity and function of other genes which can modify the disease severity
ASL is made up of
mucus layer and periciliary liquid layer
