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Researchers hail gene breakthrough

13th December 2011

Researchers from the University of Exeter have said a genetic condition could be the key to programming stem cells to turn into pancreatic cells.

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The team studied a rare condition known as pancreatic agenesis, where the body does not grow a pancreas before birth.

Genetic mutations in genes PDX1 and PTF1A have been identified as the cause in a small number of cases, but in many cases of the condition the cause was not known.

The research, which was published in Nature Genetics,  was carried out by an international team from the Peninsula College of Medicine and Dentistry at the University of Exeter.

The team found a mutation in the gene GATA6 which was discovered in 15 out of 26 people who had pancreatic agenesis.

The study received funding from bodies which included the Wellcome Trust, Diabetes UK and the National Institute for Health Research.

Professor Andrew Hattersley from the Peninsula College said: "This rare genetic condition has provided us with a surprising insight into how the pancreas develops. What is it that programmes cells to become pancreatic beta cells? Our study suggests that GATA6 plays a very important role in this process and we hope this will help the crucial work to try and make beta-cells for patients with type 1 diabetes."

Professor Sian Ellard, also from Peninsula College of Medicine and Dentistry, added: "This discovery was possible because new sequencing approaches meant we could test all the genetic information in one go and because with the help of doctors throughout the world we were able to study 27 patients with a very rare condition." 

 

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