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Potential New Cause of IBD Found

Posted on October 2, 2017


Researchers at the University of Texas Southwestern Medical Center have discovered a genetic protection against the development of inflammatory bowel disease and a potential new treatment for the condition.

Inflammatory bowel diseases are diseases of the intestinal tract marked by painful inflammation. According to the U.S. Centers for Disease Control and Prevention, IBD affects over 1.6 million Americans, with 70,000 new cases diagnosed each year.
The two most common forms of IBD are Crohn’s disease and ulcerative colitis. Many researchers believe that these conditions are similar to autoimmune diseases, in which the immune system malfunctions and sees healthy cells of the intestines as foreign invaders and attacks them.

The UTSMC study has identified another possible cause of the condition: genetics.

Genetics and the Gut

The UTSMC researchers found that individuals with inflammatory bowel conditions have a genetic mutation in their Gatm gene that prevents the body from producing creatine.

Creatine plays a significant role in the body’s ability to replenish the mucosal barrier in the intestines quickly. The mucosal barrier protects the intestinal wall from bacteria that cause inflammation in the digestive tract.

“When bacteria reach the wall of the unprotected wall of the intestine, the result is inflammation and pain,” Dr. Joel Singer said.

Singer is a New York doctor who treats patients with inflammatory bowel conditions like Crohn’s and ulcerative colitis.

When the Gatm gene is normal, the body can balance between “good bacteria” that help break down food during digestion and disease-causing bacteria. When the Gatm gene has a mutation, the body cannot achieve that balance, and disease-causing bacteria flourish.

During the study, the researchers evaluated mice with a Gatm gene mutation that had similar symptoms to individuals with IBD: diarrhea, weight loss, and damage and death of cells in the intestinal lining. They observed that when the mice were given water with creatine in it, they were able to replenish their mucosal barrier quickly and their symptoms decreased.

This breakthrough may lead to potential new treatments for IBD and improve the quality of life of IBD patients.

The Impacts of IBD

“Many people with Crohn’s disease or ulcerative colitis live with chronic pain and discomfort,” Singer said.

Symptoms of the disorders include diarrhea, bloating, painful gas and cramping, nausea, and fatigue. Severe cases also may have symptoms like rectal bleeding and unintended weight loss.

Beyond uncomfortable physical symptoms, IBDs significantly impact how sufferers live their day-to-day lives.

“Flare-ups of the condition are typically inconvenient and can strike at any time,” Singer said. “These flare-ups mean that patients may miss work, school or family activities, and many avoid relationships or social situations because of their condition.”

Both Crohn’s and ulcerative colitis can go into remission for long periods. During remission, inflammation in the intestines reduces, and symptoms subside. These periods of remission can vary from a few weeks to a year or more.

But because disease-causing bacteria are still compromising the mucosal barrier, patients relapse and symptoms return.

“Many patients become frustrated at conventional treatments because they just manage symptoms, results do not last, and therapies simply do not treat the cause of the condition,” Singer said.

Personal Cells Offer Hope for Patients With IBD

Singer provides an alternative treatment to people with IBD through personal cell therapy.

“These cells can significantly reduce inflammation in the intestinal wall. Patients report that they see a reduction in pain and other symptoms after treatment,” Singer said.

Additionally, personal cells help to reset the immune system to normal function and prevent future autoimmune attacks on the intestinal cells.

“Regenerative therapy targets the source of the disease, which is a malfunction in the immune system or malfunctioning cells, giving patients long-term relief,” Singer said.


UT Southwestern Medical Center. “Gene that protects against inflammatory bowel disease identified.” ScienceDaily. ScienceDaily, 1 February 2017.


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