Diabetes Linked to Specific Gene Mutation

A recent paper described the role of the RFX6 gene in transforming pancreatic endodermal cells into insulin producing beta cells.

More than 170 million people around the world suffer from diabetes caused by the destruction or dysfunction of pancreatic islet of Langerhans beta cells, which results in insufficiency or lack of insulin.

In a study published in the February 11, 2010, online edition of the journal Nature investigators from McGill University (Montreal, Canada) and the University of California at San Francisco (USA) searched for genes that acted downstream of the known transcription factor neurogenin 3 (Neurog3), which initiates the differentiation of the beta-cells and other islet cell types from pancreatic endoderm.

Using a line of mice genetically engineered to lack the gene RFX6, they established that this gene was required for generation of any of the normal islet cell types except for pancreatic-polypeptide-producing cells. The results in mice mirrored data obtained from human infants with an autosomal recessive syndrome of neonatal diabetes. Genetic mapping and subsequent sequencing identified mutations in the human RFX6 gene in these children.

"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 contributing author Dr. Constantin Polychronakos, professor of human genetics at McGill University.

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