Cause of Cystic Fibrosis

Cystic Fibrosis (CF), the condition, occurs when the affected gene is inherited from both the mother and the father.

The CFTR* gene gives instruction to our body’s cells to make a protein that controls the movement of salt in and out of the cells. If there is a coding error in the DNA of the gene it can reduce or eliminate its effectiveness. In CF, these changes in salt movement cause changes to the water balance in cells and causes mucus to become thickened and to build up, leading to the health complications associated with CF.

*CFTR: Cystic Fibrosis Transmembrane Conductance Regulator

In New Zealand, amongst people of Caucasian descent the occurrence of a person having one copy of the CF gene is approximately 1 in 25. This is much lower in African, Asian and Polynesian populations.

People with one CF gene are called ‘carriers’ and generally have no symptoms of CF. Being a genetic carrier is not the same as being a carrier of a viral illness like the flu, which can be caught by others. CF is not contagious, the only way someone can have CF is through inheriting faulty CFTR genes from both their parents.

For more information on the genetics of Cystic Fibrosis please view this brochure

For diagrams showing the inheritance pattern of the CF gene please visit our page Genetic Inheritance of Cystic Fibrosis

If you would like to learn more about the science of Cystic Fibrosis, a good place to start would be the Educational Resources provided on Vertex Pharmaceuticals website: https://www.cftrscience.com/educational_resources.php

particularly the https://www.cftrscience.com/mod_animation.php which shows in animated form the function of the CFTR gene and the dysfunction which causes Cystic Fibrosis.

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