> Diabetes Research > Gene Mutations to Blame for Rare Diabetes in Infants

Gene Mutations to Blame for Rare Diabetes in Infants

Scientists have discovered that a rare form of diabetes in infants may be caused by mutations in an insulin-linked gene. The study, published online by the journal Proceedings of the National Academy of Sciences, found that permanent neonatal diabetes, which affects infants and can lead to lifelong dependency on insulin, may be caused by mutations in an insulin-linked gene.

American and U.K. researchers have found 10 such mutations in 21 people from 16 families. They said that this mutation may influence how the insulin folds during its synthesis. The improper folding of these proteins may cause an interference with the other cellular processes that may result in the death of cells that produce insulin.

Study author Dr. Louis Philipson, a professor of medicine at the University of Chicago, is thrilled about the discovery as it may help find a treatment for diabetes in infants. According to Dr. Philipson, the 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.”

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