cystic fibrosis exam question by Umair - epcot

[ArchivalUser]

I didnt understand cystic fibrosis question.

Mutations in the gene for CFTR result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces. so defective CFTR results in decreased secretion of chloride and increased reabsorption of sodium and water across epithelial cells. now where is the defect in golgi or ER?

[ArchivalUser]

There's a similiar question in U world, theres abnormal post translation modification....

[ArchivalUser]

in the g.aparatus

[ArchivalUser]

CFTR is a transmembrane protein.. so to bring it to membrane golgi complex has to transport this protein to cell surface..
golgi complex is not able to do this as it is a misfolded protein due to the mutation at position 508..

i think similar is a defect in alpha antitrypsin deficiency

[ArchivalUser]

u guys r right
malfolding- a posttranslational modification
can't b transported outto membrane
similar malfoding defect in AAT deficiency

Man these guys have become tricky!!!!!!!!!