NHLBI IN THE PRESS

Gene mutation points to new way to fight heart disease, diabetes, and obesity

Researchers say they have discovered a gene mutation that slows the metabolism of sugar in the gut, giving people who have the mutation a distinct advantage over those who do not. Those with the mutation have a lower risk of heart failure, diabetes, obesity, and even death. The researchers say their finding could provide the basis for drug therapies that could mimic the workings of this gene mutation, offering a potential benefit for the millions of people who suffer with heart disease, diabetes, and obesity.  

In the study, the researchers analyzed the relationship between SGLT-1 (sodium glucose co-transporter-1) mutations and cardiometabolic disease using genetic data obtained from 8,478 participants in the Atherosclerosis Risk In Communities (ARIC) study. The study was a 25-year-long observational trial of atherosclerosis and cardiovascular risk factors in people living in four U.S. communities. 

The researchers found that about 6 percent of the subjects carried a mutation in SGLT-1 that causes limited impairment of glucose absorption. Individuals with this mutation had a lower incidence of heart failure, had a lower incidence of type 2 diabetes, were less obese, and had a lower mortality rate when compared to those without the mutation, even after adjusting for dietary intake (including total calories, sodium, and sugars). 

Based on these findings, the scientists suggest that selectively blocking the SGLT-1 receptor could provide a way to slow down glucose uptake to prevent or treat cardiometabolic disease and its consequences. The study, which is largely supported by the National Heart, Lung, and Blood Institute (NHLBI), part of the National Institutes of Health, appears in the Journal of the American College of Cardiology