Cause of cystic fibrosis

Cystic fibrosis is a genetic inherited disease

 

Genes are part of our DNA, the unique material inside all our cells that is the molecular code for everything in our body. They are a set of instructions that determine characteristics such as eye colour and hair colour.1

Genes also contain the instructions for making proteins, which are the building blocks for everything in the body and are needed to keep our bodies functioning properly. Everyone has two copies of each gene, one from each parent.1

Sometimes, a gene might have a change in it that causes it to behave differently to a normal gene; this change is called a mutation.1


Cystic fibrosis (CF) is a disease people are born with. It is a genetic disease, meaning it is inherited from your parents.2

 

cfsource
 

  • One of the genes in our bodies is called the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Everyone inherits two copies of this gene, which contains the instructions for making the CFTR protein.
     
  • If one of the CFTR genes you inherit has a mutation (change) that causes CF, this means you are a “carrier” of the mutated gene, but you do not have the condition.
     
  • If both of the CFTR genes you inherit have a mutation that causes CF, you are born with CF.
     
  • There are around 3,235 people in Australia living with CF and an estimated 100,000 people worldwide.3,4

References

  1. NHS Choices. Genetics. Available at: www.nhs.uk/conditions/Genetics/Pages/Introduction.aspx. Updated August 2014.

  2. Orenstein DM. Cystic Fibrosis: A Guide for Patient and Family. 3rd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2004.

  3. Cystic Fibrosis Australia. Cystic Fibrosis in Australia 2014: 17th Annual Report from the Australian Cystic Fibrosis Data Registry. August 2016.

  4. Cystic Fibrosis Trust. Frequently Asked Questions about cystic fibrosis. Available at: www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/faqs.​

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