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Cause of rare genetic form of diabetes discovered

UK researchers have helped to uncover the reasons behind a rare form of diabetes, pancreatic agenesis.
The condition, pancreatic agenesis, is known to be a genetic disorder and one that causes a baby to be born either with an underdeveloped pancreas or without a pancreas at all. Pancreatic agenesis is one of the less common forms of MODY (Maturity Onset Diabetes of the Young).
Having a severely underdeveloped pancreas or no pancreas makes not only controlling blood sugar levels difficult but also prevents the baby from properly digesting food and gaining weight. Studies have shown that around 3 in 10 babies born with the condition survive the first 6 weeks of life. Those that do survive are able to live by taking the pancreatic enzymes they are missing.
Whilst researchers have known which genes are associated with pancreatic agenesis, the hereditary information found in the genome was not known. The genome contains a vast amount of DNA that is encoded over 3.2 billion genetic letters.
The new research, undertaken by Imperial College London and the University of Exeter Medical School, used new techniques which allow them to study the entire sequence of the genome from 11 patients across the world known to be suffering from the form of MODY.
During the analysis, the researchers found six separate mutations within a new genetic region known as PTF1A. This part of the genome has been dubbed the ‘dark matter’ of the genome as it is has previously been so difficult to study in a systematic way.

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