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Single gene mutation may be behind type 1 diabetes for minority of patients

11 March 2013

By Reuben Harwood

Appeared in BioNews 696

Genetic analysis of a family predisposed to type 1 diabetes (T1D) has uncovered the first kind of T1D to be caused by a single gene mutation.

The study links an inherited mutation of SIRT1 to the destruction of pancreatic beta cells by the immune system. Pancreatic beta cells are important for insulin production and insufficient production of insulin, a hormone that regulates blood sugar levels, is the central feature of T1D.

The previously undocumented mutation - a single-letter change in the gene code - was discovered in a family where four members were diagnosed with T1D, and another with ulcerative colitis, an autoimmune disease.

Professor Marc Donath of Basel University Hospital in Switzerland, who led the research, said the discovery 'could allow us to understand the mechanism responsible for the disease and may open up new treatment options'.

Experiments on mice by Professor Donath's team suggest that the SIRT1 mutation causes the insulin-producing cells to release higher amounts of inflammatory chemicals, including nitric oxide, cytokines and chemokines. Excessive production of these immune modulators is known to lead to T1D and other autoimmune diseases.

The mutation uncovered in the paper is thought to exist in only a small number of people with T1D. However, Dr Patricia Kilian, director of the beta cell regeneration programme at the Juvenile Diabetes Research Foundation,  which funded the study, commented: 'Whilst the change in the genetic makeup within this family with T1D 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'.

Dr Siri Atma Greeley at the University of Chicago, who was not involved in the study, gave a somewhat more sceptical view to Medill Reports. He said that 'how many other people with diabetes or other autoimmune diseases will have mutations in this gene [...] remains entirely unknown'. He also cautioned that T1D has been linked to other genetic mutations.

To follow on from their study, Professor Donath's group are planning to create a mouse model of T1D with the specific SIRT1 mutation identified in this paper. The team also hope to begin a clinical trial to assess whether SIRT1 activators can help prevent the destruction of beta cells by the immune system.

The study was published in the journal Cell Metabolism.

JDRF (press release) | 05 March 2013 | 06 March 2013
Medill Reports Chicago | 06 March 2013
Cell Metabolism | 05 March 2013
Genetic Engineering and Biotechnology News | 06 March 2013


18 April 2016 - by Paul Waldron 
Two new studies report the creation of functioning human beta cells, which can release insulin in response to changes in blood sugar, holding promise for the treatment of diabetes...
13 October 2014 - by Julianna Photopoulos 
Millions of insulin-producing beta cells have been manufactured in the laboratory using human stem cells by scientists at Harvard University...

16 January 2012 - by Ayesha Jadoon 
'Re-training' immune cells in people with type 1 diabetes reduces the amount of insulin they need to inject, according to a results from a small clinical trial...
09 January 2012 - by Dr Marianne Kennedy 
Biotech company Osiris Therapeutics has this month released an optimistic update on its Phase II trial evaluating the use of adult stem cells for the treatment of type 1 diabetes, despite lacking positive results...
10 October 2011 - by Dr Tamara Hirsch 
Mutations in a single gene have been identified as the cause of a severe and life-threatening form of hypoglycaemia...
10 August 2009 - by Alison Cranage 
A team of researchers from Europe and the US have made insulin-producing beta cells in the pancreas of mice. These are the cells that are lost in Type 1 diabetes, and their findings may lead the way for new treatments to be developed...

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