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Gene Mutations Can Cause Neonatal Diabetes

Posted on: Tuesday, 11 September 2007, 12:00 CDT

A U.S.-British study has determined 10 previously unknown insulin gene mutations can cause permanent neonatal diabetes.

Researchers from the University of Chicago and Britain's Peninsula University said although abnormal insulin has long been associated with milder cases of type 2 diabetes, their finding marks the first time an insulin mutation has been connected with early onset of severe diabetes.

The researchers said they suspect the mutations alter the way insulin folds during its synthesis and that such improperly folded proteins interfere with other cellular processes in ways that eventually kill the cells that produce insulin.

This is a novel and potentially treatable cause of diabetes in infants, said study author Dr. Louis Philipson, a professor of medicine at the University of Chicago. It's exciting because &133; if we could detect the disease early enough and somehow silence the abnormal gene, or just protect insulin-producing cells from the damage caused by misfolding, we might be able to preserve or restore the patient's own insulin production.

The study is to appear in the Sept. 18 issue of the Proceedings of the National Academy of Sciences and is available at the journal's Web site.

Source: United Press International

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