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Discovery of rare gene mutation to prevent type 2 diabetes

Scientists identified an extremely rare mutation capable of preventing type 2 diabetes. According to scientists, the mutation is so rare it is only recognized by analyzing data from a large number of people.

Toby Anderson, 82, holds one of eight prescription drugs he uses at his home in Sun City, Arizona.
Photo by Jeff Topping/Getty Images

Rare mutation findings

This study was initiated four years ago by a team of researchers led by deputy director of the Broad Institute of Harvard and MIT, Dr. David Altshuler. The results of their study were published in the journal Nature Genetics.

The researchers conducted genetic tests on 150,000 people and determined that this mutation protects overweight people from getting diabetes. This rare mutation helps to prevent people from getting diabetes by wiping out a specific gene found in the pancreas, where insulin is produced. It appears that people who have this rare gene mutation have lower glucose levels and a bit more insulin.

This is the first time researchers found a beneficial, gene-mutation in diabetes research, according to Louis Philipson, director of the Kovler Diabetes Center at the University of Chicago.

Scientists are now attempting to determine if there are any harmful effects caused by the gene mutation. Up to now, they have not found any.

Benefits of this new discovery

This new discovery is most beneficial, in that, this may lead to the development of new medication for the prevention of type 2 diabetes.

Drug manufacturers like Amgen and Pfizer were connected to the study and are in the process of developing drugs to mimic the mutation. A corresponding author, Kári Stefánsson, MD, from deCOde Genetics, Reykjavík, Iceland remarks,

"We did look at this mutation in the context of 750 other diseases, and we did not see any influence on them, so the only thing that the mutation does is to protect against type 2 diabetes; it does not increase the risk of any other disease. What needs to be done now is to study the wisdom of using the protein made by this gene as a target, and I think it will become a focus of the pharmaceutical industry for the next few years."

However, according to Pfizer’s vice-president, Timothy Rolph, it could take 10 to 20 years for a discovery about disease and genetics to lead to the introduction of a new drug.

Read more of George Zapo’s articles about public, global, and environmental health at his website: Healthy Habits.

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