Major genetic breakthrough for ankylosing spondylitis brings trea...(R gene plays a role in the immune respon...)

Date:10/21/2007

R gene plays a role in the immune response to infection, providing instructions for making a receptor present on the surface of several types of immune system cells. The receptor is involved in triggering certain chemical signals inside the cell that promote inflammation and help coordinate the immune system's response to infection. It is already recognised as playing a role in a number of autoimmune diseases, such as Crohn's disease (a type of inflammatory bowel disease) and psoriasis (a skin disease). Ankylosing spondylitis, Crohns disease and psoriasis are known to often occur together, and this genetic finding goes a long way to explain why.

Professor Brown believes that the unexpected involvement of IL23R in ankylosing spondylitis provides a major step towards being able to treat the disease.

"We already know that IL23R is involved in inflammation, but no one had ever thought it was involved in ankylosing spondylitis," says Professor Brown. "A treatment for Crohn's disease that inhibits the activity of this gene is already undergoing human trials. This looks very promising as a potential treatment for ankylosing spondylitis."

Scientists have known that there is a genetic component to ankylosing spondylitis for 37 years, since the discovery of the gene HLA-B27. However, how this gene led to disease is not known. Professor Brown believes that the gene ARTS1 may hold the answer.

A protein created by the HLA-B27 gene takes fragments of pathogens and displays them on the outside of immune cells. These fragments then trigger the immune system to fight against the pathogen. ARTS1 is involved in breaking up the pathogen into "bite-size chunks" that can be displayed by HLA-B27.

"This strongly suggests that in ankylosing spondylitis, there are problems with the information that the HLA-B27 protein receives, thereby causing the disease," says Professor Brown.

Scientists believe that ankylosing spondylitis may be trig
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Contact: Craig Brierley c.brierley@wellcome.ac.uk 207-611-7329 Wellcome Trust Source:Eurekalert

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