Pancreatic Agenesis Discovered in Dark Matter of DNA

Scientists have just now discovered that using new technology in order to help analyze the whole genome can help determine the cause of a genetic disease that was previously referred to as "junk DNA."

Pancreatic agenesis often results in babies being born with a pancreas and leaving them at a greater risk for diabetes and other medical conditions. Fortunately, this breakthrough of genetic research led by the University of Exeter Medical School and Imperial College London has found that the condition is mostly caused by a newly identified gene regulatory element in a remote part of the genome.

"This breakthrough delves into the 'dark matter' of the genome, which until recently, was very difficult to systematically study," Dr. Mike Weedon said, according to a press release-the lead researcher and Senior Lecturer at the University of Exeter Medical School. "Now, advances in DNA sequencing technology mean we have the tools to explore these non-protein coding regions far more thoroughly, and we are finding it has a significant impact on development and disease."

Background information from the study shows that the pancreas plays an essential role in regulating glucose levels in the blood by release insulin that's generated and released by cells known as pancreatic beta cells. It also works to produce enzymes that help digest and absorb food.

Professor Andrew Hattersley, a Wellcome Trust Senior Investigator who led the Exeter team said: "This finding gives a deeper understanding to families affected by this disorder, and it also tells us more about how the pancreas develops. In the longer term, this insight could have implications for regenerative stem cell treatments for Type 1 Diabetes."

The team found six different mutations in a newly discovered PTF1A regulatory region in eleven people affected by pancreatic agenesis from across the world.

More information regarding the study can be found via the journal Nature Genetics.