Cystic Fibrosis (Mucoviscidosis)
Osmosis
diffusion of water molecules across semi-permeable membrane
semi-permeable membrane can
let in only water molecules
balancing ion concentrations on either side of the membrane
cell
is a key player
needs a balance of salt and water
to prevent bursting
to work efficiently
to maintain its size and shape
tries to maintain constant volume of water
cell can actively transporting ions by proteins (ion channels (sodium, chloride, cystic fibrosis transmembrane conductance regulator CFTR...))
Mucus
found in all humans
lines the airway in the lung
mucus contributes to the defense mechanism against bacterial infections
mucus traps bacteria and dirt
the viscosity of mucus is regulated by its water content
Cystic Fibrosis (Mucoviscidosis)
a genetic disease (a mutation in the DNA causes the disease)
caused by Non-Sense Mutation
occurs in the lung
affects intestine and pancreas
because there is no CFTR protein
influx of sodium
increased ion concentration inside the cell
water moves from mucus into cell
mucus increases viscosity
reduces the lifespan of a human drastically
CFTR
transports chloride ions out of the cell
blocks sodium ions
readthrough
possible cure
probability of having the same amino acid sequence as in the wild type protein is