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What mutation causes CF?

A 3 base deletion on chromosome 7


What significance does the mutation in CF have?

It causes a mutation in the CFTR gene = CFTR channels don't reach the apical membrane


What happens to the fingers in CF and what other diseases can this be a sign of?

Nail clubbing

Crohn's disease
Graves' disease


How does CF affect male fertility?

They are still fertile but unable to produce offspring as their vas differens aren't present.


How does CF affect the lungs?

Due to lack of Cl- moving out, the mucus is thick as there is no osmotic gradient for water to move into mucus. The DNA of dead WBCs also contributes to this.

It is hard to get up and makes infections more likely


How does CF affect the pancreas?

Thick mucus forms as no water moves into it, blocking the exocrine ducts that secrete enzymes. The pancreas becomes inflamed as a result (pancreatitis) and digestive enzymes aren't released = fatty stools (steatorrhea)


How does CF affect the sweat glands?

Cl- is not reabsorbed, so Na+ isn't reabsorbed from the sweat ducts either (cotransporter) = salty sweat


How may DNAase help CF sufferers?

Breaks down the DNA of WBCs present in the mucus of the lungs = thins the mucus a little.


What alternative therapies may CF sufferers use?

Massages to help bring up the mucus


What do antibiotics in CF sufferers prevent the infection of?

The lungs, mostly by staphylococcus aureus or by streptococcus pneumonaie.


What pills may CF sufferers take?

Ones containing digestive enzymes e.g. Lipase


How does Cl- movement affect Na+ movement?

Both bind to a cotransporter which changes shape to release them on the other side of whatever membrane. Water then follows. Without Cl-, the Na+ can't move in or out if the cell.