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Researchers Identify And Isolate First Gene For A Form Of Insulin-Dependent Diabetes

St. Louis, Oct. 1, 1998 -- Reporting in the Oct. 1 issue of the journal Nature Genetics, investigators at Washington University School of Medicine in St. Louis say they have identified the first gene known to cause a form of insulin-dependent diabetes in children.

Studying blood samples from six families affected by the disorder, the investigators found that mutations in a gene on chromosome 4 cause a disorder called Wolfram Syndrome. The disorder is characterized by insulin-dependent diabetes and vision problems, with eventual blindness. The syndrome also can include diabetes insipidus, a pituitary gland disorder associated with intense thirst and the need to excrete large amounts of urine. Some people with Wolfram Syndrome also lose their hearing.

The disorder is caused by mutations in a single gene called WFS1, the researchers found. Identification of that gene could provide important information about several disorders, but the investigators are particularly excited about how it might affect the understanding and treatment of the more common forms of diabetes, which affect more than 20 million people in the United States.

"We know that mutations in several genes predispose a person to diabetes, but unlike this one, they do not cause the disease," explained senior investigator M. Alan Permutt, M.D., professor of medicine. "If you have a mutation in this Wolfram gene, you get diabetes. So I believe this is the first gene that, when mutated, clearly leads to insulin-dependent diabetes."

Wolfram Syndrome is a rare form of insulin-dependent diabetes that strikes children at about age 6. By age 8 or 10, the children also develop visual impairment and subsequently go blind. Most suffer from progressive neurodegeneration and die in their 30s.

Since Wolfram Syndrome was identified more than 60 years ago, researchers had suspected that it was inherited. Often, parents of affected children are related to
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Contact: Jim Dryden
dryden@medicine.wustl.edu
(314) 286-0110
Washington University School of Medicine
29-Sep-1998


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