Scientists May Have Just Discovered the Cause of Crohn’s Disease

A new discovery into the potential cause of Inflammatory Bowel Disease (IBD), the most common instances of which include Crohn’s Disease and Ulcerative Colitis, could have major implications for this debilitating disorder.

As The Guardian reports, scientists at England’s Francis Crick Insitute and University College London “stumbled” upon a stretch of DNA that doesn’t code for proteins — a “gene desert,” as they’re calling it, that strongly appears to be linked to IBD.

While it shares a similar name and set of symptoms with Irritable Bowel Syndrome (IBS), IBD is distinct in its severity and can be life-threatening if left untreated.

The two disorders do share one other major thing in common: nobody really knows what causes either. But with the discovery of this “gene desert,” that may soon change for IBD.

As the Crick Institute researchers wrote in their paper, published this week in the journal Nature, the strange chromosomal weak spot that scientists found almost by accident appears only in white blood cells known as “macrophages,” which release a chemical called cytokine that catalyzes the intestinal inflammation that characterizes IBD.

In an interview with the BBC, James Lee of the Crick Institute said that when looking into the weak spot, researchers found that the bit of genetic code they’d pinpointed acts as the “master regulator” of macrophage function, sitting “right at the top of the pyramid” and dictating what chemicals are released.

In people without IBD — and without the “gene desert” in question — that section of DNA releases white blood cells like normal, which attack bacteria when necessary and chill out otherwise. For those who have the inherited weak spot, however, the release of cytokines seems overactive, flooding the intestines with the inflammation-making chemicals.

“What we have found is one of the very central pathways that goes wrong when people get inflammatory bowel disease,” Lee told The Guardian, “and this has been something of a holy grail.”

Researchers also found, strikingly, that 95 percent of people with IBD had the same chromosomal weak spot, strongly suggesting that the two are related.

What’s more, the Crick researchers also discovered that a class of anticancer drugs known as MEK inhibitors, which already exist and are used widely to block or kill cancer cells, were found to reduce inflammation in gut cells taken from IBD subjects. Further study will be needed until they can be used safely — and because white blood cells play an important part in bacterial response, scientists don’t want to completely knock them out.

Still, the one-two punch of discovering this potential genetic smoking gun and a potential way to reduce the worst symptoms of IBD and other inflammation-related immunological disorders constitutes a massive set of discoveries — and could, down the line, improve the quality of life for the estimated 10 million people who suffer from this common and debilitating illness around the world.

More on medical breakthroughs: Thousands of Patients to Be Given World’s First Cancer Vaccine