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Misinformed Immune System May Cause Type I Diabetes

Sep 3, 2009

The identification of this variant gene may help scientists develop a treatment for type 1 diabetes.

Researchers at Stanford University recently discovered that a mutated version of a gene may contribute to type 1 diabetes by sabotaging the functioning of the gene's normal version. Experiments conducted on mice with a diabetes-type disease showed that the mutated variant may prevent the healthy version from protecting the insulin-producing cells in the pancreas from attack by the immune system.

The gene, called Deaf1 (deformed epidermal autoregulatory factor 1), is a transcriptional regulator, which means that it controls the transfer of information necessary for certain functions to take place. Deaf1 is present in the body in two forms, a longer normal version and a shorter dysfunctional version. The long, normal version of Deaf1 produces molecules that protect cells from attack by the body's immune system. This is particularly relevant to those suffering from type 1 diabetes because the molecules produced by the longer version help protect the insulin-producing cells in the pancreas from that unfortunate fate.

C. Garrison Fathman, M.D., and his team at Stanford showed that a prevalence of the shorter version of Deaf1 actually dissuaded the longer version from producing these protective molecules, thus allowing the insulin-producing cells of the pancreas to be damaged. Applying their findings from the mouse experiment to human subjects, the researchers discovered a correlation between higher levels of the variant Deaf1 gene and people with type1 diabetes.

The identification of this variant gene may provide guidance in the development of a treatment that would interact with the Deaf1 protein and help to treat type 1 diabetes.

The research was funded by a grant from the National Institute of Allergy and Infectious Diseases and the National Institute of Diabetes and Digestive and Kidney Diseases, both components of the National Institutes of Health. Additional funding came from the Special Statutory Funding Program for Type 1 Diabetes Research.         


Categories: Complications & Care, Diabetes, Insulin, Research, Type 1 Issues



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