CFTR and the causes of CF

What goes wrong in cystic fibrosis

Role of the CFTR protein The normal situation

NB: Chloride- ions always move the same way as the sodium+ ions to maintain electrical neutrality. Addition of extra ions effectively reduces the concentration of free water (or makes the solution more concentrated)

Too little water; mucus too sticky

In Cystic Fibrosis

Activity 2.9. CFTR protein and membrane transport

The diagram illustrates the transport mechanisms and the movement of ions into and out of the epithelial cells which line the airways.
An example of the role of proteins in transport.

The normal situation.

Sodium ions are pumped out of the cell by active transport at the base of the cell; this lowers the concentration of sodium ions in the cell; Sodium ions diffuse into the cell at the apical end down the concentration gradient. The pumping out of the sodium ions at the base increases the concentration of ions there (so decreases the concentration of free water) so water diffuses by osmosis out of the cell this decreases the free water concentration in the cell so water diffuses by osmosis into the cell at the apical end from the mucus. NB: whichever way sodium+ ions are transported, chloride- ions are moved the same way to maintain electrical neutrality

The CF situation

Sodium ions are pumped out of the cell by active transport at the base of the cell; this lowers the concentration of sodium ions in the cell; The CFTR channel protein normally regulates the opening (when there is plenty of water in the mucus) and closing (when there is not enough water in the mucus) of the sodium ion channels In CF the CFTR protein is not present or not functioning this causes the sodium channels to remain open and chloride ions cannot leave the cell so sodium ions continue to diffuse into the cell which, with the chloride ions which cannot leave, increasing the salt concentration in the cell and decreasing the water potential which causes more water to diffuse by osmosis from the mucus into the cell which causes the mucus to become increasingly viscous (sticky) hence the symptoms of CF.

Checkpoint 2.5
For each of a) to c) write FIVE BULLET POINT STATEMENTS to describe the effect CF has on a) Gas exchange b) The digestive system c) The reproductive system

Effect of CF in the gas exchange system

Sticky mucus; builds up in lungs cannot be cleared by cilia traps dust microorganisms risk of lung infections blocks airways so breathing more difficult gas exchange in the alveoli less efficient since mucus fills alveoli and makes diffusion pathway longer and so slower so less oxygen gets into the blood

Effect of CF in the digestive system

Sticky mucus blocks pancreatic duct reduces release of digestive enzymes into small intestine reduces digestion of carbohydrates, proteins and lipids in food food not fully digested so reducing amount of essential nutrients absorbed makes diffusion pathway longer for cells to absorb what nutrient molecules there are further reducing uptake

Effect of CF in reproductive system

Sticky mucus; in females, collects in cervix blocks cervix sperm cannot penetrate mucus plug to reducing chances of fertilisation in males, blocks sperm ducts reduces sperm count, reducing fertility