The Lamen

REDUCED ACTIVITY OF A GENE MAY CAUSE IBD

by | Apr 13, 2023

"SCIENTISTS CONTINUE TO EXPLORE THE GENETIC LINKS WITH INFLAMMATION TO POTENTIALLY UNDERSTAND DISEASE MECHANISMS."
An illustration for the increasing penis size.

Inflammatory bowel disease is a chronic intestinal inflammatory disease that is still not well understood. The condition has been linked to changes in the gut flora.  |  Image: DALL•E 

A research team from the University of California reports the link between an inflammatory bowel disease (IBD) risk gene and how it affects the gut microbiome —potentially explaining how some people may develop the condition.

The burden: Inflammatory bowel disease refers to a group of chronic intestinal disorders — including ulcerative colitis and Crohn’s disease.

  • A lifelong condition, IBD can be painful with symptoms ranging from mild to severe, including abdominal pain, bloating, diarrhea, vomiting, blood in stool, and even a greater risk of developing colorectal cancer.
  • Globally, there were an estimated 9 million cases of IBD in 2019, a 47.45 percent increase from 1990.
  • While China and the U.S. reported the highest number of cases, the prevalence of IBD cases per 100,000 people was found to be 245.3 in the U.S., compared to 66.9 cases in China.
  • The annual U.S. healthcare spending on IBD was $25.4 billion in 2016, with a per-patient spending of $14,033.
  • Another study reported that patients with IBD had almost twice as many emergency room visits compared to patients with chronic inflammatory diseases. The patients with IBD spent an additional $18,500 per year on average on healthcare.

What we know: Thought to occur from interactions between genetic and environmental factors, inflammatory bowel disease influences the body’s immune response — leading to intestinal inflammation.

  • In the new study led by IBD expert Declan F. McCole, researchers report that it was the reduced activity of the PTPN2 gene was associated with the increased risk of inflammatory bowel disease (IBD).
  • Resulting in “significant changes” in the gut microbiota, the loss of PTPN2 can lead to a reduction in the production of Paneth cells in the intestine.
  • Serving as markers for IBD, Paneth cells are specialized secretory cells found in the intestinal epithelium — producing antimicrobial peptides and immunomodulating proteins that regulate the intestinal microbiome.
  • The study highlighted an increase in a variant of E. coli known to worsen inflammation.

The researchers hope to have this study serve as the foundation of future research, where rescuing the functioning of Paneth cells and limiting intestinal inflammation by microbial factors.