Summary of New Study Sheds Light on the Cause of Severe Inflammatory Bowel Disease:
Perianal Crohn’s disease is a complication of Crohn’s disease that causes inflammation in the anal area, leading to pain, itching, and discharge, as well as serious complications such as abscesses and fistulas. Scientists at Cedars-Sinai have discovered a genetic variant that increases an individual’s likelihood of experiencing perianal Crohn’s disease. The genetic variant affects the body’s ability to identify and manage bacteria, making it less effective in combating infections. The discovery may help develop new treatment strategies for patients diagnosed with this chronic inflammatory condition, who receive less effective therapies that often lead to surgery. The study was published in the journal Gut and partially funded by grants from the National Institutes of Health, the F. Widjaja Foundation, the Leona M. And Harry B. Helmsley Charitable Trust, and the Fred L. Hartley Family Foundation.
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New Genetic Variant Discovered That Increases Risk of Perianal Crohn’s Disease
Scientists at Cedars-Sinai have made a significant discovery in studying Crohn’s disease. They have identified a genetic variant that can significantly elevate an individual’s risk of developing perianal Crohn’s disease, considered the most severe form.
What is Perianal Crohn’s Disease?
Perianal Crohn’s disease is a condition where there is inflammation, ulceration, and abscesses in the skin and tissues around the anus. It affects up to 40% of people with Crohn’s disease, a chronic inflammatory disorder involving the digestive tract. The condition can cause intense pain, itching, and discharge, significantly impacting an individual’s quality of life.
New Genetic Variant Discovered
Scientists at Cedars-Sinai have discovered a genetic variant that increases an individual’s risk of developing perianal Crohn’s disease. The genetic variant leads to modifications in DNA that result in a loss of protein function. This affects the body’s ability to identify and manage bacteria, making it less effective in combating infections.
The study looked at genetic data from three independent cohorts of patients with Crohn’s disease and discovered that the genetic variant affected a protein called Complement Factor B. This protein is essential in fighting infections. With a genetic mutation, the body does not recognize bacteria as harmful, leading to tunnels between the rectum and the skin full of bacteria that are not being eliminated.
Research assistant professor Talin Haritunians noted that this discovery is unique in its focus on a severe manifestation of Crohn’s disease.
Developing New Treatments
Currently, treatments for perianal Crohn’s disease are not very effective, resulting in most patients requiring surgery and often multiple surgeries. Scientists at Cedars-Sinai hope that by understanding the underlying causes of the condition, they can begin to develop new treatment strategies for patients with this chronic inflammatory condition.
Co-senior author of the study, Dermot McGovern, MD, Ph.D., director of Translational Research in the Cedars-Sinai F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, and Joshua L. and Lisa Z. Greer Chair in Inflammatory Bowel Disease Genetics, noted that the study addresses a very significant area of unmet medical need.
Implications for Other Diseases
The study also has implications for other diseases since genetic variants predisposing individuals to one condition are often linked to other illnesses. McGovern noted that while their discovery is specific to Crohn’s disease, it potentially has ramifications for other diseases.
Funding for the Study
Grants from the National Institutes of Health, the F. Widjaja Foundation, the Leona M. And Harry B. Helmsley Charitable Trust, and the Fred L. Hartley Family Foundation partially funded the study.
Conclusion
The discovery of the genetic variant associated with perianal Crohn’s disease is a significant development in the study of the disease. The hope is that with a better understanding of the condition’s underlying causes, scientists can develop new treatment strategies to help alleviate the often debilitating symptoms and improve patient’s quality of life.
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