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Research Blast on... the CFTR gene

Welcome to the Research Blast, your fun and quirky guide to the latest in CF research. In this issue we’re turning our attention to ‘CFTR’, the gene that causes cystic fibrosis, as this month is the 30th anniversary of the discovery of the gene. Below are three fun facts about the CFTR gene and the CFTR protein that it makes, as well as a look into the research we’re funding to better understand this protein.

Q. What links a football match and the CFTR protein?
A. 90 minutes

It takes 90 minutes to correctly fold the CFTR protein into shape – that’s the same length of time as a football match! When the protein is first assembled it is like a long string of beads made up of 1,480 protein building blocks called amino acids. In order to do its job, CFTR needs to be carefully folded into shape. The full name of the CFTR gene is the ‘cystic fibrosis transmembrane conductance regulator’ – but we think CFTR is less of a mouthful! 

Q. What links a plug socket and the CFTR protein?
A. They both produce a current

When it is correctly folded and in place on the surface of the cell, CFTR acts as a channel or gate to let things out of cells. The way that CF researchers can tell if CFTR is working in cells is to measure the current caused by the movement of chloride through the channel. The amount of current produced by a working CFTR channel is around a millionth of a millionth of the amount that comes out of an electrical socket in your home!

Q. What links birthday cakes and the CFTR protein?
A. Both are ‘decorated’ with sugars

Adding sugars (called glycans) to proteins is as common as adding sugar to a cake. It happens as the protein moves from the centre of the cell where it is made, to where it does its job in the cell – in the case of CFTR, the surface of the cell. In a working CFTR protein these sugars help the protein to fold into the correct shape and stay folded. However, researchers don’t know what happens to these sugars in mutated versions of the CFTR protein that causes CF, or how they contribute to why the protein goes wrong. It’s an area of research under investigation in our F508del Strategic Research Centre, run by Professor David Sheppard.

To find out more about the how the CFTR gene was discovered and the advances made, read our recap of thirty years of the CFTR gene

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