Discovery: Gene mutation link to Type I Diabetes

Medical College of Georgia researchers have discovered a gene mutation that controls a major immune system response that leads to autoimmune diseases, such as Type I diabetes. This research was funded in part by the JDRF.

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A natural mutation of a gene that helps regulate the reactivity of the immune system is a major contributor to type 1diabetes, Medical College of Georgia researchers have found.

The newly discovered gene, SUMO-4, controls the activity of NFkB, a molecule that in turn controls the activity of cytokines, proteins that regulate the intensity and duration of the immune response, according to research that will be published in the August print issue of Nature Genetics and online July 11.

By examining the transmission of genes from parents to children in nearly 1,000 diabetic families from around the world, the researchers found that a certain natural mutation of that SUMO-4 gene increases the risk of type 1 diabetes.

"This helps us understand how type 1 diabetes works, and we can use this improved understanding to better predict who will get the disease and design new intervention strategies for those who do," said Dr. Jin-Xiong She, director of the MCG Center for Biotechnology and Genomic Medicine and a co-senior author on the study.

"The mutation we have found is going to increase the responsive capacity of the immune system to environmental triggers or stimulators; it makes it more reactive," said Dr. Cong-Yi Wang, molecular geneticist and co-senior author.

Dr. Wang and his research team found that when that mutation encounters an environmental trigger, such as a bacterial or viral infection, it throws off the usual well-balanced activity of the immune system, initiating an autoimmune response that eventually attacks the patient’s own tissue.

They already are exploring the gene’s potential role in other autoimmune diseases as well such as lupus, thyroid disease, arthritis and multiple sclerosis.