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Study Identifies Genetic Mutation that May Lead to New Treatment Options for Type 1 Diabetes

Thursday, March 07, 2013   (0 Comments)
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According to a new study published by Cell Press in Cell Metabolism, a single mutation in SIRT1, the "longevity gene,” can cause type 1 diabetes in humans.

In patients with type 1 diabetes, the immune system destroys insulin-producing cells in the pancreas. The exact reason why this happens has not been clear. These new findings uncover what role the longevity gene plays in autoimmunity and disease in humans. Additionally, the findings offer new ways to treat several autoimmune disorders.

In the study, senior study author Marc Donath and team described a family of five which all carried a mutation in the SIRT1 gene. Of this family, all developed an autoimmune disorder and four developed type 1 diabetes. From a combination of gene-sequencing techniques, the team identified a previously undocumented mutation that caused an amino acid substitution in the SIRT1 protein. In mice, inactivation of the SIRT1 gene led to the destruction of the region that produces insulin in the pancreas, which results in high levels of blood sugar.

"We describe one of the first single gene defects leading to type 1 diabetes, as well as the first human mutation in the SIRT1 gene,” Donath stated. "Our findings reveal a potential mechanistic basis for the development of a treatment for type 1 diabetes and other autoimmune diseases.”

Type 1 diabetes is a lifelong disease that can potentially be fatal. It is typically diagnosed in young individuals whose beta cells in the pancreas do not produce enough insulin resulting in high blood sugar.

"The identification of a gene leading to type 1 diabetes should allow us to understand the mechanism responsible for the disease and may open up new treatment options,” Donath stated. "To follow up on this study, we are creating mouse that carries the mutation, with the hope of developing an animal model for human type 1 diabetes, and we are exploring the possibility of conducting a clinical study with SIRT1 activators.”

Source: Cell Press, "Mutation of SIRT1 in a Family with Type 1 Diabetes”

Last updated: 3/7/13; 3:30PM EST

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