Gene Mutation Guards Against Sugar

When it comes to living well with a sweet tooth, some people have all the luck.

In a National Institutes of Health-funded study, researchers from the Brigham discovered a gene mutation that slows the metabolism of sugar in the gut—providing a distinct health advantage for those who have the mutation, including a lower risk of diabetes, obesity, heart failure, and even death.

The findings come from one of the most comprehensive studies of carbohydrate intake ever attempted, examining 25 years’ worth of follow-up information from 432,000 people in more than 20 countries. Six percent of the subjects in the study have a mutation in the gene that absorbs glucose in the gut, which means they take in less glucose while eating a high-carbohydrate diet—including pasta, breads, desserts, and sugar-sweetened beverages—compared with subjects who do not have the mutation.

The researchers’ discovery suggests this gene mutation could be mimicked in individuals without the mutation by selectively blocking the SGLT-1 receptor, the gene receptor responsible for glucose uptake. Developing new drug therapies based on this concept could benefit millions of people who suffer with diabetes, heart disease, and obesity.

“We’re excited about this study because it helps clarify the link between what we eat, what we absorb, and our risk for disease,” says lead author Scott D. Solomon, MD, director of noninvasive cardiology at the Brigham. “Knowing this opens the door to improved therapies for cardiometabolic disease.”