Mutant Gene Found in Many With Type 2 Diabetes

10% of European Descent Carry Mutations in Gene Linked to Insulin Resistance

Medically Reviewed by Laura J. Martin, MD on February 28, 2011
From the WebMD Archives

March 1, 2011 -- Mutations in a particular gene occur in nearly 10% of type 2 diabetes patients of white European descent, an international study finds.

The gene, called HMGA1, regulates the way the body responds to insulin. Mutant versions of the gene are linked to insulin resistance, a key feature of diabetes.

Previous studies have found various genes linked to type 2 diabetes. Each one slightly increases a person's risk of diabetes. Taken together, these genes can be seen in about 10% of people with diabetes.

If verified, the new finding would greatly increase this number. It's not yet clear exactly how much risk HMGA1 mutations carry, but they appear in only 1% of healthy people carefully screened for lack of diabetes and diabetes risk.

There are several different mutations linked to diabetes, but the most common one is seen in 7% of diabetes patients in Italy, France, and the U.S., report Eusebio Chiefari, MD, of the University of Catanzaro, Italy, and colleagues.

The researchers note that the finding has "important clinical implications":

  • The gene mutations may identify people at particular risk of diabetes.
  • People carrying the mutations may respond better or worse to particular diabetes treatments.
  • People carrying the gene may progress more or less quickly to dangerous complications of diabetes.
  • Drugs that make the HMGA1 gene work better may be new diabetes treatments.

Chiefari report their findings in the March 2 issue of the Journal of the American Medical Association. In an editorial accompanying the report, Abhimanyu Garg, MD, of the University of Texas Southwestern Medical Center in Dallas, notes that the findings will have to be confirmed by further research.

However, he notes that the findings strongly support the theory that insulin resistance is a key factor along the path to diabetes.

"It is anticipated that the discoveries of [new gene variants] such as HMGA1 will soon be translated into therapeutic decision-making and thereby improve the health of patients with type 2 diabetes," Garg says.

Show Sources


Chiefari, E. Journal of the American Medical Association, March 2, 1011; vol 305: pp 903-912.

Garg, A. Journal of the American Medical Association, March 2, 2011; vol 305: pp 938-939.

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