Type 2 Diabetes Mutation Identified - John P. Robarts Research Institute - Technology Information

Applied Genetics News, April, 1999

Researchers from the John P. Robarts Research Institute (London, Ontario) have discovered a genetic mutation that correlates with increased susceptibility to type 2 diabetes in a northern Canadian aboriginal group, the Oji-Cree people. The researchers discovered that diabetic adults had a high frequency of a mutation called G319S that affects the structure of hepatic nuclear factro-1 alpha (HNF-1a).

A person with one copy of the mutation was twice as likely to have diabetes as someone without the mutation. A person with 2 mutated copies of the gene was 15 times as likely to have diabetes. Moreover, the mutation accelerated the onset of diabetes. Tribe members with 1 mutated gene developed diabetes in their 30s whereas those with 2 mutated copies developed diabetes in their 20s. There was no significant incidence of the GS139 in any other major ethnic group in Canada other than the Oji-Cree. The study was published in the March 9 issue of The Journal of Clinical Endocrinology and Metabolism. Senior author on the publication is Robert Hegele, director of the Blackburn Cardiovascular Genetics Laboratory at Robarts. "This is the strongest genetic effect on diabetes I have seen in fifteen years of research," he reports. "I am unaware of any diabetic population that is so strongly affected by a single gene variant."