A rare genetic disorder has given researchers at the University of Exeter a surprising insight into how the pancreas develops. The finding provides a clue to how it may be possible to program stem cells to become pancreatic cells.

Pancreatic agenesis is a rare condition in which the body is unable to produce a pancreas. Rare mutations in the genes PDX1 and PTF1A have previously been shown to cause pancreatic agenesis but have only been identified in a handful of families affected by the condition. Until now, the underlying causes of most cases have been unknown. In a paper recently published  in Nature Genetics, an international team of researchers led by scientists from the Peninsula College of Medicine and Dentistry at the University of Exeter report a mutation in the gene GATA6 found in 15 out of 27 individuals with pancreatic agenesis. The study, funded by organizations including the Wellcome Trust, Diabetes UK, and the National Institute for Health Research, establishes a key role for GATA6 in the development of pancreatic cells.

The finding was particularly surprising because switching off the GATA6 gene in mouse models seemed to make no difference to the development of the pancreas, the researchers said.

"This rare genetic condition has provided us with a surprising insight into how the pancreas develops," said Professor Andrew Hattersley from the Peninsula College of Medicine and Dentistry. "What is it that programs 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."