Rare gene mutation causes neonatal diabetes

Fri, 21 Sep 2007
Researchers in the UK and across the pond have revealed that the particular mutation of one insulin-linked gene could cause permanent neonatal diabetes amongst infants .

Neonatal diabetes, a rare form of the disease, influences infants and then causes a lifelong need for daily insulin injections. The researchers found that a gene mutation could influence the way in which insulin folds, an influence that results in the death of the cells that produce insulin.

A professor of medicine at the University of Chicago, who authored the study alongside a UK team, reportedly commented: "This is a novel and potentially treatable cause of diabetes in infants, 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."
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