Scientists have identified a genetic variant that increases the risk of developing severe inflammatory bowel disease. The call Crohn’s disease it is an inflammatory condition that can affect any part of the digestive tract, from the mouth to the anus, and its origin is still unknown.
Patients with the moderate to severe stage are usually in very poor health and have one or more of the following symptoms: fever, weight loss, severe abdominal pain, anemia, and frequent diarrhea.
The variant causes DNA changes that lead to loss of protein function, which in turn changes the way the body recognizes and deals with bacteria, making it less effective at fighting infections.
The study was conducted by specialists from the Cedars-Sinai hospital in the United States. The results, referring to perianal Crohn’s disease, the most debilitating manifestation of the problem, were published in the scientific journal Gut.
“Fistulizing perianal Crohn’s disease can be a truly miserable condition,” senior study co-author Dermot McGovern, director of translational research at Cedars-Sinai, said in a statement. “Our current therapies really aren’t very good at treating it, so this study addresses a very significant area of unmet medical need. By understanding the underlying causes, we can begin to develop new treatment strategies for patients diagnosed with this chronic inflammatory condition, most of whom currently require surgery and often require multiple surgeries.”
Perianal Crohn’s disease is a complication of Crohn’s disease, a chronic inflammatory disorder that affects the digestive tract. The complication causes inflammation and ulceration of the skin around the anus, as well as other structures in the perianal region. The perianal form occurs in up to 40% of those diagnosed and has limited responses to treatment, resulting in poor quality of life.
“We are much more successful in identifying genetic variants associated with the risk of developing disease, but what we have done here is to focus specifically on a very complicated and severe manifestation of Crohn’s disease. And this is an unusual approach in genetics research,” said Talin Haritunians, an assistant research professor at the McGovern Laboratory and a co-author of the study.
To discover genetic variants directly linked to the severe manifestation, the researchers analyzed genetic data from three independent groups of patients with Crohn’s disease. The evaluation included a pool of subjects seen at Cedars-Sinai Hospital, an international genetic pool recruited from more than 20 countries, and volunteers recruited from seven academic medical research centers in the United States.
The three groups totaled 4,000 patients with perianal Crohn’s disease and over 11,000 patients with Crohn’s disease without this complication. The team of scientists compared populations to see if they could detect areas of the genome associated with the development of the manifestation.
The team identified 10 new and 14 known genetic markers of inflammatory bowel disease associated with the development of perianal complications.
During the analysis, the team focused on a single change in a specific gene, called the SNP, associated with perianal Crohn’s disease. This genetic variant affects a protein called Complement Factor B (CFB), which leads to a loss of function of this important protein for fighting infections, which may be why patients with this genetic alteration are more likely to have the disease. illness.
Experts performed several analyzes to confirm that there really is a loss of function in the CFB, which can have a significant impact on the organism.
“In the case where you have this mutation that leads to a non-functional protein, you don’t get the normal signaling cascade and the body doesn’t recognize the bacteria as harmful and therefore those bacteria are not eliminated,” said study co-authors. Kathrin Michelsen, Research Assistant Professor of Medicine and Biomedical Sciences at Cedars-Sinai. “So for patients with perianal Crohn’s disease, there are connections that form from the rectum to the skin area. And these tunnels are full of bacteria that are not being eliminated.”
According to the researchers, this genetic variant may also be associated with other diseases. The findings could pave the way for the development of new long-term treatment strategies for the condition.
“These genetic variants often predispose to more than one condition, and we believe this finding could have ramifications for other diseases as well, not just Crohn’s disease,” said McGovern.
Scientists are seeking to identify the role of additional genetic variants associated with perianal Crohn’s disease and other areas of unmet medical need in inflammatory bowel disease.
Source: CNN Brasil
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