Rare genetic change provides clues to pancreas development

Researchers have discovered a key clue into the development of the pancreas and brain by studying rare patients born without a pancreas. The study from the Wellcome Sanger Institute, the University of Exeter, and collaborators also identified a previously unexpected pathway involved in the development of the human pancreas, and confirmed this in mice. Understanding how the human pancreas forms could help researchers develop replacement cells to treat patients with type 1 diabetes in the future.

Published April 18 in the American Journal of Human Genetics, the study revealed that all three patients without a pancreas and with abnormal brain development had an identical change in the CNOT1 gene. The team went on to show how this genetic change kept stem cells in their original state, preventing them from developing into pancreatic cells.

The pancreas is part of the digestive system and makes various hormones, including insulin that controls the amount of sugar in the blood. Problems with the insulin-producing cells in the pancreas can cause type 1 diabetes, which affects over 10 million people worldwide.