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First single gene mutation shown to result in type 1 diabetes

Date:
March 5, 2013
Source:
JDRF
Summary:
A new study has shown that a single gene called SIRT1 may be involved in the development of type 1 diabetes (T1D) and other autoimmune diseases. The study represents the first demonstration of a monogenetic defect leading to the onset of T1D.

A JDRF-funded study out of Switzerland has shown that a single gene called SIRT1 may be involved in the development of type 1 diabetes (T1D) and other autoimmune diseases. The study, "Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes," was published March 5 in Cell Metabolism and represents the first demonstration of a monogenetic defect leading to the onset of T1D.

The research began when Marc Donath, M.D., endocrinologist and researcher at the University Hospital Basel in Switzerland, discovered an interesting pattern of autoimmune disease within the family of one of his patients, a 26-year-old male who had recently been diagnosed with T1D. The patient showed an uncommonly strong family history of T1D; his sister, father, and paternal cousin had also been diagnosed earlier in their lives. Additionally, another family member had developed ulcerative colitis, also an autoimmune disease.

"This pattern of inheritance was indicative of dominant genetic mutation, and we therefore decided to attempt to identify it," Dr. Donath said.

Four years of analysis using three different genotyping and sequencing techniques pointed to a mutation on the SIRT1 gene as the common indicator of autoimmune disease within the family. The SIRT1 gene plays a role in regulating metabolism and protecting against age-related disease. To gain more understanding of how this genetic change in SIRT1 leads to T1D, Dr. Donath and his team performed additional studies with animal models of T1D. When the mutant SIRT1 gene found in the families was expressed in beta cells, those beta cells generated more mediators that were destructive to them. Furthermore, knocking out the normal SIRT1 gene in mice resulted in their becoming more susceptible to diabetes with greatly increased islet destruction. Dr. Donath speculates that the beta cell 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 us 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 Regeneration Program 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 beta cell survival and function in more common forms of the disease. This study also reinforces increasing evidence that abnormal beta cell 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."

JDRF is continuing to fund research by Dr. Donath that builds off of these latest findings.


Story Source:

The above story is based on materials provided by JDRF. Note: Materials may be edited for content and length.


Journal Reference:

  1. Anna Biason-Lauber, Marianne Böni-Schnetzler, Basil P. Hubbard, Karim Bouzakri, Andrea Brunner, Claudia Cavelti-Weder, Cornelia Keller, Monika Meyer-Böni, Daniel T. Meier, Caroline Brorsson, Katharina Timper, Gil Leibowitz, Andrea Patrignani, Remy Bruggmann, Gino Boily, Henryk Zulewski, Andreas Geier, Jennifer M. Cermak, Peter Elliott, James L. Ellis, Christoph Westphal, Urs Knobel, Jyrki J. Eloranta, Julie Kerr-Conte, François Pattou, Daniel Konrad, Christian M. Matter, Adriano Fontana, Gerhard Rogler, Ralph Schlapbach, Camille Regairaz, José M. Carballido, Benjamin Glaser, Michael W. McBurney, Flemming Pociot, David A. Sinclair, Marc Y. Donath. Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes. Cell Metabolism, 2013; 17 (3): 448 DOI: 10.1016/j.cmet.2013.02.001

Cite This Page:

JDRF. "First single gene mutation shown to result in type 1 diabetes." ScienceDaily. ScienceDaily, 5 March 2013. <www.sciencedaily.com/releases/2013/03/130305131408.htm>.
JDRF. (2013, March 5). First single gene mutation shown to result in type 1 diabetes. ScienceDaily. Retrieved October 20, 2014 from www.sciencedaily.com/releases/2013/03/130305131408.htm
JDRF. "First single gene mutation shown to result in type 1 diabetes." ScienceDaily. www.sciencedaily.com/releases/2013/03/130305131408.htm (accessed October 20, 2014).

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