Major cause of inflammatory bowel disease found – so what are the symptoms and how can you treat it?

Scientists say they have made a ‘holy grail’ breakthrough after discovering a major cause of inflammatory bowel disease (IBD) that could unlock new treatments.

Until now, experts weren’t sure what exactly causes the condition, which includes Crohn’s disease and ulcerative colitis.

But researchers in London have discovered a genetic weakness that is present in 95 percent of people with IBD.

And in what could be good news for the half a million Brits with the condition, they discovered that pre-existing medications – prescribed for other conditions – could combat this weakness.

Experts said the discovery could help patients get targeted treatments faster and even help other patients with other immune-based conditions that affect the spine, liver and blood vessels.

Until now, experts didn’t know exactly what causes the condition. But researchers in London have discovered a genetic weakness that is present in 95 percent of people with IBD. And in what could be good news for the half a million Brits with the condition, they found that pre-existing medications – prescribed for other non-inflammatory conditions – could combat this weakness.

Dr. James Lee, an expert in genetic disease mechanisms at the Francis Crick Institute in London who led the research, said: ‘What we’ve found is one of the very central pathways that goes wrong when people get inflammatory bowel disease and this is something of a sacred Grail.’

‘Even for pure, fundamental immunology, this is a very exciting discovery.

“But to show that this is dysregulated in people who develop a disease not only gives us a better understanding of the disease, it also tells us that this is something we can treat.”

It is believed that more than 10 million people worldwide are affected by IBD.

Existing treatments do not work for every patient and an incomplete understanding of the causes of IBD has hampered the search for new treatments.

IBD occurs when the immune system mistakenly attacks the intestines, causing a range of debilitating symptoms, including abdominal pain, diarrhea and blood in the stool.

The disease can also cause sudden weight loss and crippling fatigue.

Although no cure is available, symptoms can be controlled with medications. These are usually most effective if given soon after diagnosis.

However, in some patients these medications do not work and may require major surgery.

For example, one-fifth of people with Crohn’s disease will need surgery in the first five years after their diagnosis.

Researchers on the new study, which also included experts from University College London and Imperial College London, focused on a so-called ‘gene desert’ – a region of human DNA that does not code for proteins.

But they discovered that it contained DNA that is only found in a type of white blood cell, which is part of the body’s immune system, called macrophages.

This increased the levels of a gene called ETS2, which is known to increase the risk of IBD.

Although no drugs specifically target ETS2, the authors write in the journal Naturementioned existing medications prescribed for other conditions may be effective.

They highlighted a type of cancer drug called MEK inhibitors, which work by preventing specific proteins from growing, as a potential candidate.

And tests conducted by the researchers showed that MEK inhibitors reduced inflammation not only in the immune cells themselves, but also in intestinal cell samples from patients with IBD.

However, because MEK inhibitors can negatively affect other organs, researchers are now trying to find ways to deliver the drugs directly to patients’ macrophages.

They aim to begin clinical trials within five years.

Christina Stankey, PhD candidate at the Francis Crick Institute and co-author of the study, said: ‘IBD and other autoimmune diseases are very complex, with multiple genetic and environmental risk factors, so to find one of the central mechanisms, and to showing how this can be eliminated with an existing drug is a huge step forward.’

Meanwhile, Ruth Wakeman, director of services at Crohn’s and Colitis UK, said: ‘Crohn’s and colitis are complex, lifelong conditions for which there is no cure, but research like this helps us answer some of the big questions about what causes them.

‘This research is a very exciting step towards the possibility of a world free of Crohn’s disease and colitis.’