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Mutant Gene May Play Role in Crohn’s Disease

Posted on June 18, 2009

Anti-Inflammatory Protein Lowered by Mutation

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(HealthNewsDigest.com) – Weill Cornell scientists have discovered how a genetic mutation contributes to Crohn’s disease, a chronic inflammatory bowel condition. Dr. Xiaojing Ma, professor of microbiology & immunology at Weill Cornell Medical College, and his team determined that the gene mutation, found in nearly half of Crohn’s patients, hampers production of an anti-inflammatory protein, called interleukin-10 (IL-10).

New results published in a recent issue of Nature Immunology show that the mutant NOD2 gene leads to a lowered production of IL-10. Before now, it was unclear how the mutation influences Crohn’s in humans, because mice with the mutation produce normal levels of IL-10.

Cells harvested from human patients with the mutation were found to produce less IL-10 in laboratory experiments. The researchers hope their findings will eventually lead to therapies that can overcome the IL-10 deficiency in Crohn’s patients.

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