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Wednesday
Mar022011

Study Finds Gene Mutation Associated with Type 2 Diabetes

Photo Courtesy - Getty Images(SAN FRANCISCO) -- Type 2 diabetes affects more than 200 million people worldwide. The disease involves an inability of bloodsugar to enter the cells to supply energy. A new study finds that about 10 percent of these patients in the United States and Europe have a gene mutation associated with the disease. 

Dr. Ira Goldfine from the University of California, San Francisco, the co-author of the study, analyzed DNA from patients with and without Type 2 diabetes over a period of several years. Researchers found the HMGA-1 mutation -- a gene that makes a protein and when present tells the cells to make insulin receptors -- in a group of Italian diabetics and then replicated that finding in U.S. and French patients. "About 10 percent of Type 2 diabetics in the United States and Europe have defects in this gene," Dr. Goldfine says. 

The study appears in this week's Journal of the American Medical Association and researchers say they identified four abnormalities in the gene sequence.  "There's a sort of scrambling of the sequence which shows that there is a defect at this point in the gene," according to Dr. Goldfine.

Researchers also took cells from these patients and in a test tube managed to correct the defect and normalize the cells. "We have a screening test now to identify these people and people who are related to them so we can start treatment and intervention early," says Goldfine. 

Researchers also say understanding the genetic component may help diabetic patients receive more targeted treatments.

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