Mutant Gene Protects Against Type 2 Diabetes Offering Path to New Drugs

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. By Flannick and colleagues. Nature Genetics 2014, published online March 2, 2014

What is the problem and what is known about it so far?

People who are overweight/obese or elderly are at an increased risk for type 2 diabetes, but not everyone who carries extra weight or reaches an advanced age develops the disease. Genetics play a role in protecting certain people from diabetes, but scientists are still working out the details of how that protection works.

Why did the researchers do this particular study?

Researchers wanted to identify the genes that protect people with multiple risk factors from developing type 2 diabetes.

Who was studied?

The study included genetic information from 758 individuals from Finland or Sweden, including 352 lean and young people with type 2 diabetes and 406 overweight and elderly people without diabetes. The researchers also studied genetic information from an additional 150,000 people.

How was the study done?

The researchers first looked at the group of 758 people for mutations that were more common in the overweight elderly people without type 2 diabetes than in the lean young participants with the disease, in hopes of finding genetic mutations that protect those at high risk of type 2 diabetes. The number of people included in this part of the study was too small for the researchers to find any significant links between genes and type 2 diabetes, but they did get a hint that mutations in a particular gene, called SLC30A8, could protect people from diabetes. As a next step, the researchers scaled up their genetic testing to include 150,000 people to see if SLC30A8 was actually linked to type 2 diabetes.

What did the researchers find?

Based on the data from 150,000 people, the researchers found that people with mutations that destroyed the function of SLC30A8 had a 65% lower risk of type 2 diabetes.

What were the limitations of the study?

While SLC30A8 appears to be linked to diabetes, the researchers don't actually know what this gene does or how it's related to diabetes. Studying the behavior of this gene and how it affects health will be the subjects of future research.

What are the implications of the study?

Developing chemicals that inhibit the gene SLC30A8, mimicking the destruction caused by mutations, could lead to new and highly effective medications for type 2 diabetes.

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