Gene Mutations May Cause Rare Neonatal Diabetes

Mutations in an insulin-linked gene can cause permanent neonatal diabetes, say American and U.K. researchers. They have identified 10 such mutations in 21 people from 16 families.

Permanent neonatal diabetes is a rare form of diabetes that affects infants and leads to lifelong dependence on insulin injections. This is the first study to link insulin gene mutations to severe diabetes with onset early in life, the researchers said. The mutations may influence the way insulin folds during its synthesis. These improperly folded proteins interfere then with other cellular processes in ways that eventually result in the death of cells that produce insulin, the researchers said.

The findings were published online by the journal Proceedings of the National Academy of Sciences and were expected to be in an upcoming print issue.

"This is a novel and potentially treatable cause of diabetes in infants," study author Dr. Louis Philipson, professor of medicine at the University of Chicago, said in a prepared statement.

This research "is exciting, because each of these patients has one normal insulin gene as well as one mutated gene. 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," Philipson said.