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Mutations hold promise for diabetes care

Published 5:12 pm, Thursday, March 6, 2014
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Widespread condition
Here are some key statistics on diabetes, from the American Diabetes Association:
25.8 million children and adults in the United States have diabetes. Of those cases, about 7 million are undiagnosed.
In Connecticut, there are 294,000 people with diabetes.
Of those with diagnosed diabetes nationwide, between 90 and 95 percent have Type 2 diabetes.
As many as one in three American adults will have diabetes in 2050 if present trends continue.
Diabetes kills more Americans every year than AIDS and breast cancer combined.
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It kills more people every year than AIDS and breast cancer combined. It increases the chances of multiple health problems, from heart disease to kidney disease to blindness.

And yet, a cure for diabetes, which affects 25.8 million Americans, hasn't been found. That's troublesome to many in the health care field, including Nicola Santoro, an associate research scientist at the Yale University School of Medicine.

"Diabetes has a very high morbidity and mortality rate," said Santoro, who focuses on pediatric obesity and diabetes. "And behind every number is a person with a family."

So he was heartened by the recent news that a more effective treatment for the chronic illness could be on its way. New research published this week in the journal Nature Genetics shows that a rare gene mutation can reduce the risk of developing Type 2 diabetes, the most common type of diabetes.

That's true even in those at highest risk for the condition, including the elderly and the obese. The study means new hope for the development of diabetes-targeting medications, which Santoro and other experts said could be game-changing.

"The finding is remarkable," Santoro said. "If you can find a way to reduce the expression of this gene, maybe you can cure diabetes."

Diabetes is a chronic illness affecting the body's ability to produce insulin, which is necessary so the body can process the glucose from food into energy. In Type 2 diabetes, the most common form of the condition, either the body doesn't produce enough insulin or the cells ignore the insulin. Type 2 diabetes affects more than 300 million people worldwide, and 90 to 95 percent of the 25.8 million Americans with diabetes. In Connecticut, nearly 300,000 people have some form of diabetes.

The new study grew out of a collaboration between the pharmaceutical company Pfizer, the Lund University Diabetes Centre in Sweden, Massachusetts General Hospital and the Broad Institute in Massachusetts. Researchers did a genetic analysis of 150,000 patients showing that rare mutations in the gene SLC30A8 reduce the risk of Type 2 diabetes by 65 percent.

Many people can manage their diabetes with medications and lifestyle changes, such as improving how they eat and exercising more. But these treatments don't help everyone, which is a big reason why the new research has made such a splash. Still, this doesn't mean a cure is right around the corner, said Dr. Ranee Lleva, an endocrinologist at Greenwich Hospital's diabetes and weight management program.

"There's a lot of research that still needs to be done" to figure out how to craft medication that targets the specific gene, she said. "While it sounds very interesting and sounds promising, I wouldn't hold my breath."

Yet, like Santoro, Lleva said this is a ray of hope for those who struggle with diabetes and the doctors who treat this population. "It's certainly a novel take on how we approach this condition," she said.