What causes Cystic Fibrosis?

We each have about 25,000 pairs of genes. Everybody receives one copy of their genes from their mother and the other copy from their father. Genes contain instructions to make us what we are, from our hair colour, to our bones, to our digestive enzymes.

CF is caused when there is an alteration (also known as a mutation) in the CFTR gene. Everybody has two copies of the CFTR gene (one from each parent). The CFTR gene contains information for the production of a protein that transports salt in and out of the cell. An alteration in the CFTR gene can prevent it from working properly. When an individual carries an alteration in both copies of the CFTR gene they have CF. There are about 1000 known CFTR gene alterations, although some are more common than others.