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 today 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.
JDRF is the leading global organization focused on type 1 diabetes (T1D) research. Driven by passionate, grassroots volunteers connected to children, adolescents, and adults with this disease, JDRF is now the largest charitable supporter of T1D research. The goal of JDRF research is to improve the lives of all people affected by T1D by accelerating progress on the most promising opportunities for curing, better treating, and preventing T1D. JDRF collaborates with a wide spectrum of partners who share this goal.
Since its founding in 1970, JDRF has awarded more than $1.7 billion to diabetes research. Past JDRF efforts have helped to significantly advance the care of people with this disease, and have expanded the critical scientific understanding of T1D. JDRF will not rest until T1D is fully conquered. More than 80 percent of JDRF's expenditures directly support research and research-related education.
Tara Wilcox-Ghanoonparvar | Source: EurekAlert!
Further information: www.jdrf.org
More articles from Life Sciences:
Drought makes Borneo’s trees flower at the same time
22.05.2013 | Universität Zürich
Researchers find genetic tie to improved survival time for pulmonary fibrosis
22.05.2013 | University of Colorado Denver
A fried breakfast food popular in Spain provided the inspiration for the development of doughnut-shaped droplets that may provide scientists with a new approach for studying fundamental issues in physics, mathematics and materials.
The doughnut-shaped droplets, a shape known as toroidal, are formed from two dissimilar liquids using a simple rotating stage and an injection needle. About a millimeter in overall size, the droplets are produced individually, their shapes maintained by a surrounding springy material made of polymers.
Droplets in this toroidal shape made ...
Frauhofer FEP will present a novel roll-to-roll manufacturing process for high-barriers and functional films for flexible displays at the SID DisplayWeek 2013 in Vancouver – the International showcase for the Display Industry.
Displays that are flexible and paper thin at the same time?! What might still seem like science fiction will be a major topic at the SID Display Week 2013 that currently takes place in Vancouver in Canada.
High manufacturing cost and a short lifetime are still a major obstacle on ...
University of Würzburg physicists have succeeded in creating a new type of laser.
Its operation principle is completely different from conventional devices, which opens up the possibility of a significantly reduced energy input requirement. The researchers report their work in the current issue of Nature.
It also emits light the waves of which are in phase with one another: the polariton laser, developed ...
Innsbruck physicists led by Rainer Blatt and Peter Zoller experimentally gained a deep insight into the nature of quantum mechanical phase transitions.
They are the first scientists that simulated the competition between two rival dynamical processes at a novel type of transition between two quantum mechanical orders. They have published the results of their work in the journal Nature Physics.
“When water boils, its molecules are released as vapor. We call this ...
Researchers have shown that, by using global positioning systems (GPS) to measure ground deformation caused by a large underwater earthquake, they can provide accurate warning of the resulting tsunami in just a few minutes after the earthquake onset.
For the devastating Japan 2011 event, the team reveals that the analysis of the GPS data and issue of a detailed tsunami alert would have taken no more than three minutes. The results are published on 17 May in Natural Hazards and Earth System Sciences, an open access journal of ...
22.05.2013 | Life Sciences
22.05.2013 | Ecology, The Environment and Conservation
22.05.2013 | Earth Sciences
17.05.2013 | Event News
15.05.2013 | Event News
08.05.2013 | Event News