Elbowing Out

There are a set of instructions in your body which make a specific gate (the science name for this is “ion channel“). Around 200,000 Dinky Amigos work together to make the instructions for this gate.

Some of these Dinky Amigos are not always on their best behaviour. There’s barging and shoving, swapping and disappearing altogether! Sometimes this leads to a disease called Cystic Fibrosis.  Scientists currently know of 2028 ways in which badly behaved Dinky Amigos can cause this disease. We would like to tell you about some of them.





Hi, Gina here.

If Tristan can have a go at talking to you, then so can I. I’m in the CFTR gene too and I want to let you know that Alina is not always as goody-two-shoes as she makes herself out to be.  Don’t get me wrong, she is great and she does do loads of stuff to help. But sometimes she’s as bad as everyone else.

As you probably now know,  the CFTR gene is not always a safe place to be. There are pockets of unruliness all over the shop. I try and avoid all of that, but it’s not always easy.

Like the time I was busy in line, making instructions and minding my own business. I went to the dance as normal.  (We all dance, it’s how we make you grow.)  Every Dinky Amigo has to dance whether they like it or not. Personally I think it is a great thing and really enjoy twisting and turning and finding new partners.

There I was, having a great time, following the music when Alina barged in! I don’t mean we bumped into each other. No, I mean she nipped in, elbowed me out of the way and took my place in the line-up. It was such a shock that I just stood there and let her do it.

That was a mistake.

She danced off with all the others and next thing you know, she is busy making the instructions for my part of the gate. That didn’t work out. Her being there instead of me changed those instructions. Instead of telling the cell builders which bit of the gate to build next, she told them to stop building entirely!

So they did.

The problem is, that now your gate doesn’t work and that might mean you have cystic fibrosis.


Clinical Variation

Scientists call this type of behaviour a substitution.

This particular substitution is called c.3846G>A. The number tells scientists exactly whereabouts in your DNA I am – or rather was. The G>A bit tells them that Alina snuck in and pinched my spot in the line-up. (Another name for it is  W1282X. The X means that Alina has told the builders to stop.)

A swap like this is more common than you might think, especially in certain groups of people. Scientists also have a test for it. If you show signs of being poorly they can check.