First Gene mutation identified in Type I diabetes

A new study from Switzerland has identified new molecular pathways involved in diabetes.  A single gene called SIRT1 has been identified in being involved in the development of diabetes, specifically type 1 diabetes (T1D).  The study is the first demonstration of a mutagenic defect linked to the development of type 1 diabetes. 

The study was developed using three different genotyping and sequencing techniques of a family that was plagued with autoimmune disease. The common causal factor was a mutation of the SIRT1 gene which played a role in regulating metabolism and protected against age related disease.

In order to analyze the impact of SIRT1 on diabetes animal studies were performed with animal models of T1D. When the mutant SIRT1 gene was expressed in test cells, the test cells produced substances that were destructive to the cells.  When the SIRT1 gene was incapacitated in mice, it resulted in an increased susceptibility to diabetes with a greater increase in pancreatic islet destruction.

The pancreas is involved in insulin production through the and islet cell transplants have shown a promising future for the treatment of diabetes.

Dr. Donath, the study leader, speculates that the impairment and death due to the SIRT1 mutation subsequently activates the immune system toward T1D. “The identification of a gene leading to type 1 diabetes could allow to understand the mechanism responsible for the disease and may open up new treatment options,” Dr. Donath explained. Patricia Kilian, Ph.D., director of the Beta Cell at JDRF, concurred, and said that the development is exciting for many reasons: “While the change in the genetic makeup within this family with type 1 diabetes is rare, the discovery of the role of the SIRT1 pathway in affecting beta cells could help scientists find ways to enhance survival and function in more common forms of the disease. This study also reinforces increasing evidence that abnormal function has a role in the development of type 1 diabetes, and that blocking or reversing early stages of beta cell dysfunction may help prevent or significantly delay the disease’s onset. Drug companies are already in the process of developing SIRT1 activators, which could eventually speed our ability to translate these new research findings into meaningful therapies for patients.”


Science Daily


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