Navigation Links
First single gene mutation shown to result in type 1 diabetes

New York, NY, March 5, 2013 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.


Contact: Tara Wilcox-Ghanoonparvar

Related medicine news :

1. First evidence that obesity gene is risk factor for melanoma
2. Researchers describe first functional HIV cure in an infant
3. Zoloft Lawsuit News: Bernstein Liebhard LLP Notes New Pretrial Order in Federal Zoloft Litigation Establishing Tentative Date for First Bellwether Trial
4. Geoff Neupert, StrongFirst Master Kettlebell Instructor, Releases New Video Detailing How To Make Seemingly Unlimited Progress With Only One Kettlebell
5. Federal NuvaRing Blood-Clotting Lawsuits Report: Resource4thePeople Updates Consumers with News That First Bellwether Trial Rescheduled to July
6. U.N. Secretary-General Appoints Ray Chambers as His First Special Envoy for the Financing of the Health-Related Millennium Development Goals
7. Geoff Neupert, StrongFirst Master Kettlebell Instructor, Releases New Video Showing the Best Upper Body Exercises to Use in Traditional Kettlebell Workouts
8. NYC Chiropractor Will Soon be the First Chiropractor in New York to Offer ISCS 2.0 Non Surgical Spinal Decompression
9. Educational First Steps Hosts Early Childhood Education Conference and Symposium for Over 500 Early Childhood Professionals
10. The Triangle’s First Orthopaedic Ambulatory Surgery Center Officially Opens in Brier Creek
11. $3.35 Million Awarded in First Transvaginal Mesh Trial Verdict: Prompts Support Expansion
Post Your Comments:
(Date:6/27/2016)... ... June 27, 2016 , ... ... technology to revolutionize the emergency ambulance transport experience for the millions of people ... how Uber has disrupted the taxi industry through the use of technology. Now, ...
(Date:6/26/2016)... ... , ... PawPaws brand pet supplements owned by Whole Health Supply ... health of felines. The formula is all-natural and is made from Chinese herbs that ... Cat Kidney Support Supplement Soft Chews are Astragalus Root Extract and Rehmannia Root ...
(Date:6/25/2016)... (PRWEB) , ... June 25, 2016 , ... The temporary closing of Bruton Memorial Library ... City Observer , brings up a new, often overlooked aspect of head lice: the parasite’s ... for fumigation is not a common occurrence, but a necessary one in the event that ...
(Date:6/25/2016)... ... ... On Friday, June 10, Van Mitchell, Secretary of the Maryland Department of ... recognition of their exemplary accomplishments in worksite health promotion. , The Wellness at Work ... Symposium at the BWI Marriott in Linthicum Heights. iHire was one of 42 businesses ...
(Date:6/24/2016)... CA (PRWEB) , ... June 24, 2016 , ... Marcy was in a crisis. Her ... would lash out at his family verbally and physically. , “When something upset him, he ... he would use it. He would throw rocks at my other children and say he ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... Research and Markets has announced the addition of the ... offering. The current unmet ... for MedImmune to enter. The US ageing population creates a ... considerable growth for effective anti-influenza medications. The introduction of a ... development is still in its infancy. Key ...
(Date:6/23/2016)... RIDGE, Ill. and INDIANAPOLIS ... of students receiving a Lilly Diabetes Tomorrow,s Leaders Scholarship ... The 2016 scholarship winners, announced today online at ... to let type 1 diabetes stand in the way ... Diabetes has supported the Foundation,s scholarship program since 2012, ...
(Date:6/23/2016)... June 23, 2016  Guerbet announced today that it ... Supplier Horizon Award . One of 12 ... recognized for its support of Premier members through exceptional ... excellence, and commitment to lower costs. ... recognition of our outstanding customer service from Premier," says ...
Breaking Medicine Technology: