What causes cystic fibrosis?

A mutation in the cystic fibrosis transmembrane regulatory protein

What does the CFTR protein do?

It helps control the viscosity (or stickiness) of mucus that lines the epithelial cells of the airways, digestive and reproductive systems
mucus
cilia

epithelial cell

If the mucus in airways is

too sticky: the cilia cannot beat and remove the mucus, which then clogs up airways
too runny: the mucus can flood the airways

When there is excess water in the mucus

Water is drawn out of the mucus and it thickens
ClNa+
H2O

mucus
apical membrane

5 CFTR channel closed

Na+ channel open

basal membrane

pump

H2O
4

3 Cl-

Na+

H2O

tissue fluid

When there is too little water in the mucus

Water is drawn out of the mucus and it becomes less sticky
Na+ 3
apical membrane

Na+
2

Cl-

mucus
4

Na+ channel closed

CFTR channel open

1 Cl-

H2O

H2O
5

The CFTR somehow blocks the sodium channels

basal membrane

pump
Na+

H2O

tissue fluid

With cystic fibrosis

The mucus becomes very thick and sticky
Cl2
apical membrane

Na+

H2O 3

mucus

X
Na+ channel open

CFTR nonfunctional

Water drawn out by osmosis H2O

basal membrane

The CFTR protein cannot block the sodium channels so they are always open

Cl-

H2O

tissue fluid

How cystic fibrosis affects the lungs

Sticky mucus builds up in the airways, reducing flow of air into alveoli. Lungs gradually fill up with mucus, making them less effective for gas exchange.

Symptoms: Severe coughing - to remove excess mucus. Breathlessness - shortage of oxygen increases tiredness and lack of energy Infections - as bacteria are trapped in mucus

How does cystic fibrosis affect the reproductive systems?

Men Women

Sperm duct is blocked During the menstrual and prevents cycle the levels of movement of sperm mucus vary. Women with CF have thick levels of mucus which can block the cervix so sperm cannot reach them.

Can lack the sperm ducts

How cystic fibrosis affects the digestive system:

Thick, sticky mucus blocks the pancreatic duct preventing enzymes from reaching the duodenum.

Food is not digested and absorbed sufferers fail to put on body mass and suffer malnutrition.

Trapped digestive enzymes damage the pancreatic cells affecting cells producing insulin resulting in diabetes.