Diabetes Prevented by Gene Mutation

diabetesDiabetes may be prevented by a rare genetic mutation found in the human genome. The mutation reduces the chances of contracting type-2 diabetes by at least 66 percent. The study was based on the genetic testing of 150,000. The mutation effects a gene called SLC30A8 by limiting a protein called ZnT8 that produces insulin. Those who have the mutation seem to produce slightly more insulin and have lower blood glucose levels for their entire lives. The results came as a surprise to the international community because the same mutation the team was studying in humans had already been studied in mice. The mutation had been observed to actually cause diabetes in certain strains of mice.

The international team began their work two years ago with population samples from Finland and Sweden. 28,000 people were studied and put into groups of high risk and low risk for diabetes, comparing things like age, weight, lifestyle, history of diseases and diabetes. There where 406 people in the high risk group, their age averaged 80 years old and according to Dr. Timothy Rolph, Vice President of Pfizer a research based pharmaceutical company, they “all had bad habits.” The high risk group smoked, drank, where overweight and had a static lifestyle, but they did not have diabetes.

Two people out of the high risk group were found to have a mutation that limited ZnT8. The find prompted further investigation and the team widened their research base and collected data from 18,000 people who fit the high risk profile. 31 people from that study showed to have the same mutation as the previous two.

The international team led by Dr. David Altshuler, Deputy Director of the Board Institute of Harvard and M.I.T, met with Chief executive of deCODE genetics Dr. Stefanson in Ireland to search their genetics database for more examples of the mutation they had found. DeCODE is a genetics institute that carries a vast library of genetic samples taken from the Icelandic population. The group found 39 out of 5,440 people had the mutation. Dr. Stefanson said the search took just five minutes to complete. They then submitted their findings to a medical journal but were rejected. The reviewer stated their findings must be wrong because it contradicts what studies had shown with mice.

The team decided to gather more evidence mapping out the genes of 13,000 more people with similar results. They wrote a second paper and had it published by Nature Genetics. These studies show promising potential for drugs that mimic the mutations effects. The idea is the creation of a drug that allows the patient to produce more insulin and lower the blood glucose levels without having to directly inject insulin to stabilize although Timothy Rolph cautions it could take 10 to 20 years to get the drug to market.

Diabetes has swept the world and is considered a growing epidemic. In the U.S. 25.8 million Americans have diabetes with 1.9 Americans aged 20 or older are newly diagnosed with diabetes every year, according to the American Diabetes Association. If present trends continue it is believed by 2050 1 in 3 Americans will be diagnosed with diabetes. The discovery of this mutation may have come just in time to thwart the rising numbers of diabetes.

By Eric Ohm


New York Times

Medical News Today

American Diabetes Association