Gene mutation identified that could lead to type 1 diabetes

Wed, 06 Mar 2013
Type 1 diabetes in humans may be caused by a single mutation in the "longevity gene" SIRT1, according to new research published in the journal Cell Metabolism .

The SIRT1 gene plays a role in regulating metabolism and protecting against age-related disease. But this latest study, funded by the Juvenile Diabetes Research Foundation (JDRF), is the first to reveal the role this gene has in human autoimmunity and disease, and could lead to the development of new treatments for type 1 diabetes and other autoimmune conditions.

Scientists at the University Hospital Basel in Switzerland began the research after discovered a family affected by carrying autoimmune disorders. Four affected members had been diagnosed with type 1 diabetes, while another family had developed ulcerative colitis, also an autoimmune disease .

Using a combination of gene-sequencing techniques, the researchers identified a mutation on the SIRT1 gene as the common indicator of autoimmune disease within the family. The previously undocumented mutation caused an amino acid substitution in the SIRT1 protein.

Furthermore, animal studies showed that deactivating the gene in mice led to the destruction of pancreatic islets ' clusters of cells that consist of insulin-producing beta cells ' causing the mice to become more susceptible to diabetes .

Lead researcher Dr Marc Donath explained that beta cell impairment and death due to the SIRT1 mutation may subsequently activate the immune system towards type 1 diabetes.

He said: "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.

"To follow up on this study, we are creating a 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."
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