, WC1
Hoofdstukken in ‘Molecular Biology of the cell’’:
H1 blz 2-7, 22-23, 25-29
H2 blz 100-101
H4 blz 175-201
H8 blz 473-474
Intro voorbeeld Cystic Fybrosis
Normaal functioneren van CFTR:
CFTR eiwit
• Cystic fibrosis transmembrane conductance regulator
• Cl- transporter in plasmamembraan van epitheliale cellen
• Actief Cl- transport reguleert passief Na+ en H20 transport over het plasma membraan:
Cl- export → Na+ export → H2O export
• Belangrijk voor hydratatie van mucuslaag in de longen en functioneren daarvan als
verdediging tegen infecties → Vloeibaar waardoor gevangen bacteriën richting de mond
kunnen worden getransporteerd
Verminderde werking CFTR:
Gemuteerd CFTR eiwit
• Verminderd Cl- export → verhoogde Na+ resorptie → dehydratatie van mucuslaag want
water gaat weg van de muscuslaag de intracellulaire ruimte in → infecties
• Mutaties geven ook fenotype in andere organen (pancreas, zweetklier)
Gemuteerd CFTR is autosomaal recessief. Er zijn enorm veel soorten mutaties die nog besproken
gaan worden.
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