Rare Mutation May Protect Against Diabetes

protect diabetesA revolutionary study may potentially offer a future where type 2 diabetes is protected against with more than just diet and exercise. The study was based on genetic testing of 150,000 people and has found a rare mutation that lowers the risk of diabetes hugely, prompting drug companies to look in that direction for a drug to mimic the effects. The companies that helped to finance the study, Pfizer and Amgen, are already starting programs aimed at developing drugs that act like the mutation; the drugs could eventually limit the number of people who depend on medications daily, as well as resulting in fewer people needing to purchase supplies for diabetes such as Accuchek lancets or FreeStyle lite testing strips.


The mutation that the study’s researchers discovered protects even those who are overweight and obese from developing the chronic disease by destroying a gene used by pancreas cells. The study was published in Nature Genetics, and followed a mutation so rare that finding it has only recently become possible. Louis Philipson, director of the Kovler Diabetes Center at the University of Chicago noted that this is the first time in diabetes research that a mutation that destroys a gene has proved beneficial—in fact, the same mutation in some strains of mice doesn’t protect against diabetes but instead causes diabetes in the animals. The study began with 28,000 study participants from Finland and Sweden who had been studied for years. One group of 352 people developed type 2 diabetes in spite of their lack of traditional risk factors: they were lean and did not smoke. These individuals of course require supplies for diabetes, as well as medications.


Another group, however, was the exact opposite; in spite of the fact that they had bad habits—being overweight, drinking, and smoking, as well as being in a high-risk age group, they didn’t have diabetes. Two of those in the study belonging to that mystery group turned out to have a mutation that destroyed one copy of a particular gene, called ZnT8. The researchers expanded their work, studying the genes of 18,000 people in Sweden of all groups—and found another 31 people who seemed protected from diabetes with that same mutation. Eventually, they were able to get access to more data through Amgen’s genetic database and other resources and came to discover that while 39 people out of 5,440 who had the mutation did not have diabetes, only nine out of 3,727 people with the mutation developed diabetes. Those with the mutation have their risk reduced by two thirds versus those who do not. Pfizer, among others, is interested in the research as an opportunity to create new drugs. Patients with diabetes spend a great deal of money annually on diabetic supplies such as Accuchek lancets and FreeStyle lite testing strips; medications that currently exist for type 2 diabetes also have a number of side effects. Of course, it is important to note that it can take from 10 to 20 years to get a drug on the market after discovering something new about human genetics and disease. But the possibility of hope is great.

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