Newly Found Genetic Mutation Could Help Diabetes, Cardiovascular Disease Treatment

October 11, 2018
Newly Found Genetic Mutation Could Help Diabetes, Cardiovascular Disease Treatment
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An international team of researchers has discovered a single gene mutation that slows the metabolism of sugar in the gut providing people with the mutation protection against diabetes, obesity and heart disease. The finding suggests potential therapies that could mimic this mutation to treat people with these conditions.

“We’re excited about this study because it helps clarify the link between what we eat, what we absorb, and our risk for disease,” said lead researcher Scott D. Solomon, M.D., a professor of medicine at Harvard Medical School and a senior physician at Brigham and Women’s Hospital. “Knowing this opens the door to improved therapies for cardiometabolic disease.”

The study “Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk” was published this week in the Journal of the American College of Cardiology.

The study is the first to fully evaluate the link between mutations in the gene mainly responsible for absorbing glucose in the gut—SGLT-1, or sodium glucose co-transporter-1—and cardiometabolic disease. The study leveraged genetic data of 8,478 participants in the Atherosclerosis Risk In Communities (ARIC) study, a 25-year-long observational trial of atherosclerosis and cardiovascular risk factors in people living in four U.S. communities to better understand the relationship between SGLT-1 mutations and cardiometabolic disease.

Among this cohort, roughly 6% of participants carried the mutation in SGLT-1 that causes limited impairment of glucose absorption. These subjects showed a lower incidence of diabetes, were less obese, had lower rates of heart failure, and a lower mortality rate compared with those without the mutation. The study adjusted its findings for dietary intake including total carbohydrates, sodium and sugars.

The findings suggest that finding ways to selectively block the SGLT-1 receptor could slow glucose uptake to either prevent or treat cardiometabolic disease and it consequences. In the U.S. alone the annual cost of treating diabetes alone rose to $327 billion in 2017, a 25% increase in just five years, according to the American Diabetes Association.  Currently, 30 million people in the U.S. are diagnosed with diabetes and it is estimated that another 84 million have prediabetes.

The study was largely supported by the National Heart, Lung, and Blood Institute (NHLBI), which is part of the NIH. Additional funding was provided by the National Institute of Diabetes and Digestive and Kidney Diseases, as well as other sources outside the NIH.