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Gene is Risk Factor for Type 1 Diabetes

By Cheryl Simon Silver

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As scientists try to unravel the complexities of type 1 diabetes, a new study focuses attention on a recently identified gene that may contribute to the development of the disease.

Researchers at the Medical College of Georgia in Augusta report in Nature Genetics that a mutation of a gene known as SUMO-4 appears more frequently in individuals with type 1 diabetes than in individuals without the disease. The researchers, led by Jin-Xiong She, found that the mutation increases the activity of protein that in turn activates the autoimmune response that underlies diabetes.

“This gene is not sufficient to cause type 1 diabetes, but it appears to increase risk for the disease,” says She. “The discovery of the gene provides a new way to understand how genes can interact with environmental factors such as infections that trigger the immune response that underlies diabetes.”

The new information may be used to help predict the risk of developing the disease for some individuals if a genetic test becomes widely available. Currently, the test is only available through experimental research programs.

The SUMO-4 gene, which resides on chromosome 6, is one of a number of genes believed to contribute to type 1 diabetes, also known as juvenile diabetes.

Earlier this year, researchers at Baylor College of Medicine in Houston reported that a variant of the SUMO-4 gene was associated with type 1 diabetes in certain families and may be involved in the pathogenesis of the disease. SUMO stands for small ubiquitin-related modifier.

Guo, D. et al. A functional variant of SUMO4, a new IκBα modifier, is associated with type 1 diabetes. Published online in Nature Genetics (July 11, 2004).
Bohren, K.M. et al. A M55V polymorphism in a novel SUMO gene (SUMO-4) differentially activates heat shock transcription factors and is associated with susceptibility to type 1 diabetes mellitus. Journal of Biological Chemistry 279, 27233-272338 (June 25, 2004).

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