Diabetes gene mutation indicated in 10 percent of cases

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by Wendy Rigby / KENS 5

kens5.com

Posted on March 1, 2011 at 3:48 PM

Updated Sunday, Nov 3 at 9:33 AM

SAN ANTONIO -- Type 2 diabetes is at epidemic proportions, affecting 200 million people worldwide. March 1, 2011, scientists announced a breakthrough discovery in how the disease develops.

Scientists have pinpointed a gene that may account for about 10% of cases. That means someday, perhaps in our lifetime, doctors will be able to use gene therapy as a cure for some type 2 diabetics.
 
Testing his blood sugar is an everyday occurrence for Arthur Lyons since he was diagnosed with type two diabetes three years ago.
 
“It’s something I have to be very well aware of most of the time,” Lyons commented.
 
And so may his children, since the disease has some genetic components.
 
“For the first time, we found a protein that’s important and we found that there are defects of this protein in diabetics,” explained Dr. Ira Goldfine of the University of California San Francisco.
 
Goldfine and his colleagues analyzed DNA from patients over a period of several years and found mutations in a gene called HMGA-1, a gene that makes a protein that creates insulin receptors. A malfunction means people can’t convert blood sugar to energy as efficiently.
 
At the Texas Diabetes Institute, San Antonio researchers said the news is important, but caution it’s a long way from the discovery of a gene to actual gene therapy.
 
“This is a small gain,” said U.T. Health Science Center diabetes research Dr. Eugenio Cersosimo. “It’s only responsible, as far as we can tell, for 10% of the diabetic population, which is huge. It’s enormous. And there’s about 90% in whom we don’t know what the genetic defect is.”
 
Still, 10% of patients is millions of people. The encouraging news is published in this week’s Journal of the American Medical Association (JAMA).
 
“There’s got to be genes and the more we find the better,” Cersosimo said. “We still have a long way to go.”
 
Scientists reported they took cells from the patients with the gene mutation and in a test tube they managed to correct the defect and normalize cells.

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