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1st appeared 2 September 1999

First Gene Defect Identified for Precursor to Adult Diabetes

Scientists have identified the first genetic defect linked to insulin resistance, a precursor to most of the 15 million cases of adult diabetes in the United States. The research helps clarify the murky understanding of what causes insulin resistance and diabetes. It identifies a target -- the gene’s abnormal protein -- for potential new drugs to treat both conditions.

The research, published in the September issue of the journal Diabetes, is a collaboration between scientists at UCSF and in Italy.

Ira GoldfineAbout 60 million people in the US and a similar number in Europe are insulin resistant, a condition in which the body’s insulin cannot efficiently metabolize the sugar, glucose. Most of these people are not diabetic because the pancreas is able to secrete extra amounts of insulin. But one in four insulin-resistant people -- about 15 million Americans -- develop adult diabetes when they become unable to maintain normal insulin and glucose levels. Adult, or type 2, diabetes is by far the most common form of the disease.

Several natural proteins have been implicated in insulin resistance, including a protein called PC-1, produced in abnormally high concentrations by many insulin-resistant people. Since it blocks insulin’s ability to stimulate cells’ use of the sugar, glucose, PC-1 has been considered a prime suspect in insulin resistance.

In the research reported today, the scientists mapped all the instruction-bearing regions of the human PC-1 gene and discovered that a single DNA "letter," or nucleotide, out of more than 2,500, sometimes takes an alternate form. This form -- which they called the Q allele -- is about three times more common among insulin-resistant people and more than twice as frequent among adult diabetics than in people with normal insulin function, they discovered.

This research marks the first time any gene for the common form of insulin resistance has been completely mapped.

"By zeroing in on the protein coded by this newly discovered variant, along with the more common form of PC-1, drug designers may be able to target a far higher proportion of insulin-resistant people," said Ira Goldfine, professor of medicine and physiology at UCSF and co-author of the paper in Diabetes.

Links:

Full UCSF press release

Diabetes Education and Treatment Center

Related Daybreak stories:

Diabetes Teaching Center Broadens its Breadth

Gene Therapy Technique Could Eliminate Insulin Injections for Many Diabetics

Source: Wallace Ravven, News Services


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