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Rare Mutation Protects Against Type 2 Diabetes


WebMD News from HealthDay

March 5, 2014 -- Scientitsts who identified a rare mutation that protects people from developing type 2 diabetes say the finding may lead to the development of new drugs that can prevent the disease.

The mutation -- which shields even overweight people from diabetes -- was pinpointed by the researchers after they conducted genetic tests on 150,000 people, The New York Times reported.

The mutation wipes out a gene used by cells in the pancreas, where insulin is produced. People with the mutation appear to make a bit more insulin and have somewhat lower blood sugar levels than others.

The findings from the study, which began four years ago, were published in the journal Nature Genetics.

"The study is a tour de force, and the authors are the top people in the field," Dr. Samuel Klein, director of the center for human nutrition at Washington University School of Medicine, told The Times. He was not involved in the study.

Drug makers Pfizer and Amgen were associated with the study and have launched efforts to develop drugs that mimic the mutation. However, it can take 10 to 20 years for a discovery about genetics and disease to lead to the introduction of a new drug, noted Timothy Rolph, a Pfizer vice president.

The mutation is so rare that it could only be identified by analyzing data from a huge number of people, according to scientists.

This is the first time in diabetes research that investigators have found a gene-destroying mutation that is beneficial, Louis Philipson, director of the Kovler Diabetes Center at the University of Chicago, told The Times.

The research team -- led by Dr. David Altshuler, deputy director of the Broad Institute of Harvard and MIT -- is now trying to determine if the mutation has any harmful effects. So far, there appear to be none.

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