A gene commonly mutated in Crohn’s disease sufferers is responsible for allowing the body’s immune system to ‘chat’ to microbes in the gut. Researchers at Hammersmith Hospitals NHS Trust and Imperial College London who have uncovered the role of this gene say that it will now be possible to develop better tests for this debilitating disease, and will help researchers to uncover the genetic basis of Crohn’s and similar inflammatory bowel diseases.
Writing in the journal The Lancet tomorrow (21 May), the Hammersmith researchers describe the effect that mutations in the gene, known as NOD2/CARD15, has on the release of immune system molecules in the gut. Normally, the gene produces a protein that is involved in recognising bacteria in the gut. This recognition prevents the initiation of an early immune response, which subsequently leads to the lining of the gut becoming inflamed. In around a quarter of Crohn’s disease sufferers, mutations in the NOD2/CARD15 gene prevent this communication from taking place.
“The NOD2/CARD15 system was the first genetic defect found to be associated with Crohns disease, but until now we haven’t been able to understand exactly why this caused the disease,” comments study leader Dr David van Heel, gastroenterologist at Hammersmith Hospital and Imperial College London. “Our studies suggest that this defect does not allow the immune system to work properly in the very earliest stages of mounting an immune response."
Simon Wilde | alfa
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