(TheIndependentStar.com) – In what is described as a “holy grail” medical discovery, researchers have identified a significant catalyst for inflammatory bowel disease (IBD) as well as several other immune-related disorders that impact the spine, liver, and arteries, generating optimism for millions globally.
This discovery is particularly noteworthy because it involves a biological pathway that is amenable to intervention with existing pharmaceuticals, with ongoing efforts to refine these treatments for use in patients with IBD and similar ailments, The Guardian reports.
“What we have found is one of the very central pathways that goes wrong when people get inflammatory bowel disease and this has been something of a holy grail,” said Dr. James Lee, who leads the genetic mechanisms of disease laboratory at the Francis Crick Institute in London.
“Even for pure, fundamental immunology this is a really exciting discovery. But to show this is dysregulated in people who get disease not only gives us a better understanding of the disease, it tells us this is something we can treat,” Lee further noted.
In the UK alone, over half a million individuals suffer from inflammatory bowel disease, primarily Crohn’s disease and ulcerative colitis, with the worldwide number reaching at least 7 million.
These diseases manifest when the immune system erroneously targets the bowel, leading to severe symptoms such as abdominal pain, weight loss, diarrhea, and blood in the stool.
While steroids and other medications provide symptomatic relief, many patients eventually require surgical intervention to remove affected bowel sections.
The discovery emerged unexpectedly as Lee’s team explored a section of non-protein-coding DNA on chromosome 21, known as a “gene desert,” which had previously been linked to IBD and other autoimmune diseases.
As detailed in their publication in Nature, they uncovered a DNA segment that acts as a regulatory volume control for adjacent genes.
This “enhancer” specifically amplified a gene known as ETS2 in macrophages, significantly elevating IBD risk.
Through meticulous gene editing experiments, the researchers demonstrated that ETS2 plays a pivotal role in the inflammatory actions of macrophages and their propensity to damage the bowel in cases of IBD.
“There’s been a search for some time for the central drivers of this pathogenic process, and this is what we’ve stumbled on,” remarked Lee, who also serves as a consultant gastroenterologist at the Royal Free Hospital and UCL.
This pathway is also implicated in other autoimmune disorders, including ankylosing spondylitis, which affects the spine and joints in approximately one in 1,000 individuals globally, and less common autoimmune diseases that impact the liver and arteries.
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