Genetic Defect May Improve Treatments for Gut Diseases

New findings concerning an uncommon genetic disorder may impact the diagnosis and treatment of inflammatory bowel disease, the most common chronic gastrointestinal illness in children and teens. Inflammatory disease occurs in the form of Crohn's disease and ulcerative colitis and affects approximately two million Americans.

Researchers from the U.S. and Canada have discovered a genetic defect not previously known to be a cause of granulomatous disease – an inherited disorder with recurring bacterial and fungal infections. Some patients also develop gastrointestinal inflammation, as occurred in the patients in whom the new defect was identified. The disease, which occurs in about 1 in 200,000, is usually diagnosed in childhood.

Granulomatous disease is a condition in which an enzyme defect prevents white blood cells in the body from killing invading bacteria. The new findings highlight how abnormal white blood cell function can predispose individuals to inflammatory bowel disease, and may provide insight into why the disease develops.

Lead researcher of the Indiana University School of Medicine, Mary Dinauer, M.D., explains the findings: “We now know that a genetic defect that selectively affects the production of oxidants inside of white blood cells can cause gastrointestinal symptoms of CGD. Exploring the gene defect’s role in inflammatory bowel disease and immune processes will be a key priority in the future.”


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