Scientists have found a gene mutation that can reduce a person's risk of Type 2 diabetes, regardless of risk factors such as age and weight.
In the study "Loss-of-function mutations in SLC30A8 protect against type 2 diabetes" published in Nature Genetics March 2, researchers conducted a genetic test on 150,000 individuals and found a rare mutation on the gene called SLC30A8 that protects even high-risk individuals from getting Type 2 diabetes.
The mutation disrupts the normal function of a protein known as ZnT8, which is responsible for transporting zinc into insulin-producing cells where it is crucial in the crystallization of the insulin. The researchers found that individuals with the mutation seem to produce more insulin and have slightly lower blood glucose than those without the mutation.
The researchers also noted the significant effect of the mutation as it reduces diabetes risks by 65 percent safeguarding those with damaged SLC30A8 from Type 2 diabetes, regardless of whether they are obese and have bad habits such as smoking and drinking.
Pharmaceutical company Pfizer, which has helped fund the study and biopharmaceutical company Amgen, which owns deCODE Genetic, the company that provided data on genes and diseases for the population in Iceland, which were crucial in the research, are already working on programs that would develop drugs that mimic the mutation.
"Through this partnership, we have been able to identify genetic mutations related to loss of gene function, which are protective against type 2 diabetes," said Pfizer vice president Timothy Rolph. "Such genetic associations provide important new insights into the pathogenesis of diabetes, potentially leading to the discovery of drug targets, which may result in a novel medicine."
Rolph, who is also Chief Scientific Officer of Cardiovascular, Metabolic & Endocrine Disease Research at Pfizer, however, pointed out that it may take up to 20 years to get the drug to the market. The researchers were nonetheless hopeful of the study's implications in providing a therapeutic strategy to preventing Type 2 Diabetes which affects about 300 million individuals worldwide.
"This work underscores that human genetics is not just a tool for understanding biology: It can also powerfully inform drug discovery by addressing one of the most challenging and important questions - knowing which targets to go after," said study author David Altshuler, a professor of Genetics at the Massachusetts General Hospital in Boston.
