A major cause of Inflammatory Bowel Disease (IBD) has been discovered by UK scientists. They found a weak spot in our DNA that is present in 95% of people with the disease.
It makes it much easier for some immune cells to go haywire and drive excessive inflammation in the bowels.
The team have found drugs that already exist seem to reverse the disease in laboratory experiments and are now aiming for human trials.
Crohn’s disease and ulcerative colitis are the most common forms of inflammatory bowel disease. They are estimated to affect half a million people in the UK.
It often starts as a teenager or young adult.
Lauren Golightly, who is now 27, had her first symptoms when she was 16 years old and had stomach cramps and blood in her poo.
But this was put down to partying and it was not until she was 21 and having surgery to remove her appendix that doctors realised she had Crohn’s disease.
Three years ago she needed an emergency stoma after part of her intestines had “shut down” and still has to “take a lot of pain medication” because of the number of operations she has needed.
“It’s not the life I’d aspire to be living,” she says.
So what is going wrong?
One part of the immune system that is highly implicated in IBD are white blood cells called macrophages.
These flood the linings of the intestines where they release chemicals – called cytokines – that lead to massive inflammation.
Inflammation is part of the body’s normal response to infection, but too much for too long can have devastating health consequences.
The group of researchers at the Francis Crick Institute and University College London performed a deep genetic analysis to try to unpick the cause of IBD.
They discovered a section of genetic code – or DNA – that turns out to be the macrophage’s “master regulator” of inflammation.
It sits right at “the top of the pyramid” says Dr. James Lee, from the Francis Crick Institute.
The gene controls the suite of inflammatory chemicals the macrophages release, and some people are born with a version that makes their body prone to responding excessively.
Dr. Lee told me: “This is undoubtedly one of the central pathways that goes wrong for people to get inflammatory bowel disease.
“It is the process by which one of the most important cells that causes inflammatory bowel disease goes wrong.”
READ MORE: BBC