Scientists have claimed that they have made a “holy grail” breakthrough by identifying a significant cause of inflammatory bowel disease (IBD) that has the potential to unleash new treatments.
Experts were previously uncertain about the precise cause of the condition, which encompasses ulcerative colitis and Crohn’s disease.
However, researchers in London have identified a genetic vulnerability that is present in 95% of individuals with IBD.
Additionally, they discovered that medications that were previously prescribed for other conditions could mitigate this vulnerability, which could be advantageous for the half million British individuals who suffer from the condition.
The discovery, according to experts, has the potential to expedite the delivery of targeted remedies to patients and potentially benefit other patients with immune-based disorders that affect the spine, liver, and arteries.
Experts were previously uncertain about the precise cause of the condition. However, researchers in London have identified a genetic vulnerability that is present in 95% of individuals with IBD. Additionally, they discovered that medications that were previously prescribed for non-inflammatory conditions could help address this frailty, which could be beneficial for the half million British individuals who suffer from the condition.
The research was conducted by Dr. James Lee, a genetic mechanisms expert at the Francis Crick Institute in London. He stated, “What we have discovered 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.”
This is a truly thrilling discovery, even for pure, fundamental immunology.
“However, demonstrating that this is dysregulated in individuals who develop disease not only enhances our comprehension of the disease, but also indicates that it is a condition that can be treated.”
IBD is believed to affect over 10 million individuals worldwide.
The search for new treatments has been impeded by an incomplete comprehension of the underlying causes of IBD, and existing remedies are not effective for all patients.
IBD is a condition that results from the immune system’s mistaken attack on the colon, which leads to a variety of debilitating symptoms, such as abdominal discomfort, diarrhea, and blood in the stools.
Additionally, the illness may induce abrupt weight loss and incapacitating fatigue.
Although there is currently no cure, medications can be employed to alleviate symptoms. These are most effective when administered promptly following a diagnosis.
Nevertheless, certain patients may require significant surgery if these medications are ineffective.
For instance, surgery will be required by one-fifth of individuals diagnosed with Crohn’s disease within the initial five years of their condition.
The new study, which also included experts from Imperial College London and University College London, concentrated on a region of human DNA that does not encode proteins, which is referred to as a “gene desert.”
However, they discovered that it contained DNA that is exclusively present in macrophages, a type of white blood cell that is a component of the body’s immune system.
This increased the levels of a gene called ETS2, which is known to increase the likelihood of an individual developing IBD.
Existing medications that are prescribed for other conditions may be effective, according to the authors of a study published in the journal Nature, despite the fact that no medicines are specifically designed to target ETS2.
A potential candidate was identified as a form of cancer drug known as MEK inhibitors, which function by preventing the growth of specific proteins.
MEK inhibitors were found to reduce inflammation in gastrointestinal cell samples from patients with IBD, in addition to in the immune cells themselves, according to the researchers’ experiments.
Nevertheless, the researchers are currently exploring methods to directly deliver the medications to the macrophages of patients, as MEK inhibitors can have a detrimental impact on other organs.
They intend to initiate clinical trials within the next five years.
Christina Stankey, a PhD student at the Francis Crick Institute and co-author of the study, stated, “IBD and other autoimmune conditions are extremely intricate, with numerous genetic and environmental risk factors. Therefore, the discovery of one of the central pathways and the demonstration of its potential inhibition with an existing drug is a significant advancement.”
In the interim, Ruth Wakeman, director of services at Crohn’s and Colitis UK, stated that “Crohn’s and colitis are complex, lifelong conditions for which there is no cure. However, research such as this is assisting us in addressing some of the major questions regarding their causes.”
“This research is a truly thrilling advancement toward the potential of a world devoid of Crohn’s and colitis.”