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. More...