First junk DNA disease found
Monday November 11th, 2013
British scientists have for the first time found the cause of a disease in genetic matter until recently regarded as "junk DNA," it was announced last night.
The
discovery relates to a rare genetic disease which means babies are born
without a pancreas, leaving them with diabetes and massive problems in
digesting food.
The scientists, based at Exeter University and Imperial College London, have found the condition is "most commonly" caused by mutations in a remote part of the human gene system.
The findings, from a study of 11 patients drawn from around the world, were reported in Nature Genetics.
The researchers report finding six different mutations in the recently discovered PTF1A regulatory region.
They say their findings could have implications for the future treatment of type 1 diabetes, which affects large numbers of people.
Much junk DNA is now thought to play a role in switching mainstream genes on and off.
Researcher Dr Mike Weedon, from Exeter University Medical School, said: "This breakthrough delves into the dark matter of the genome, which until recently, was very difficult to systematically study.
"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."
Nature Genetics 10 November 2013
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