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Greek scientist of McGill University offers hope for Diabetes

1Hope may be on the horizon for diabetes sufferers, estimated at 171 million worldwide, thanks to collaboration between teams from McGill University and the University of California at San Francisco (UCSF). Diabetes is a chronic condition that occurs when the pancreas does not produce enough insulin because of destruction or dysfunction of small clusters of cells, known as islets of Langerhans. However, the rest of the pancreas, which produces digestive enzymes (the exocrine part), is intact.
It is known that during embryonic development, and in all likelihood throughout life, exocrine cells can transform to become islet cells and begin secreting insulin. Finding a way to activate this transformation holds great promise but the genes involved are not completely known.
The team of Constantin Polychronakos (foto) of McGill’s Endocrine Genetics Laboratory at the Children’s Hospital site of Research Institute of the McGill University Hospital Centre (RI-MUHC) used state-of the art technologies such as capture microarrays and highly parallel sequencing to examine a previously unstudied gene known as RFX6. They discovered mutations in this gene and found that they are the cause of a rare syndrome of neonatal diabetes involving complete absence of islets of Langerhans. The work is set to be published in the journal Nature.
Collaborator Michael German of UCSF showed the same outcome in animals – that mice, whose RFX6 gene was artificially disrupted, develop exactly the same syndrome as found in the neonatal diabetes cases. Although this syndrome is an extremely rare cause of diabetes, knowledge of the gene involved may benefit all people suffering from diabetes.
“This discovery brings us closer to one day finding a cure for diabetes. Now that we know the RFX6 gene is crucial in the process of insulin production, the door is open to finding a cure through gene therapy or therapeutics that will create new islets out of cells from the rest of the pancreas,” said Polychronakos.
The study was funded by the Juvenile Diabetes Foundation.

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