Gene Mutation May Be Linked to Lower Disease Risks.

By: Kea Schwarz

A beneficial gene mutation has been discovered that slows the metabolism of sugar in the

gut. Those that have this mutation are better off than those who don’t have the mutation. There is

an overall decreased risk of diabetes, obesity, heart failure, and even death, that is associated

with the mutation. These finding can help with further research and drug therapy development.

There is a potential to create drugs that mimic this gene mutation, which could offer the same

advantage for the millions of people suffering with these diseases.1

The study appears in the Journal of the American College of Cardiology. In the study,

researchers looked at the relationship between SGLT-1 mutations and cardiometabolic disease.

The Sodium/glucose co-transporter (SGLT)-1 protein is a rate-limiting factor for glucose and

galactose absorption in the small intestine. Mutations of the SGLT1 gene result in impaired

cellular glucose transport and cause glucose-galactose malabsorption. Though it is rare, it can

have a big impact on a person’s nutritional status and life.2 Food frequency questionnaires, self-

reported medical history, biochemical labs, and genetic information were all used in the analysis

of the results for the 8,478 men and women apart of the Atherosclerosis Risk In Communities

(ARIC) study. The study was an observational trial of atherosclerosis and cardiovascular risk

factors in people living in four U.S. communities. Additionally, the study took place over a 25-

year period.1 The results of the study suggested that around six percent of the participants carried

a mutation in SGLT-1 that caused limited impairment of glucose absorption. Those with the

mutation had an overall lower incidence of type 2 diabetes, were less obese, had a lower rate of

heart failure, and a lower mortality rate compared to individuals without the mutation. This was

true even after adjusting for dietary intake, which included total calories, sodium, and sugars. 2
 This study is an aid in clarifying the link between what we eat, what we absorb, and our

disease risk. Those with the SGLT-1 mutation who consume a high-carbohydrate diet, including

pasta, bread, and sugar-sweetened beverages, will absorb less glucose than those without the

mutation. Knowing this, scientists now suggest that selectively blocking the SGLT-1 receptor

could be a way to slow glucose uptake in order to prevent or treat cardiometabolic disease and its

relating consequences. The development of such drug therapies could take many years and

would require clinical trials to determine the ability of the drug to reduce the incidence of

diabetes and heart failure and increase lifespan.1

Diagram from journal article.2

References:
1. Science and Technology Research News. Gene Mutation Points to New Way to Fight
Diabetes, Obesity, Heart Disease. STRN.
http://www.scienceandtechnologyresearchnews.com/gene-mutation-points-to-new-way-
to-fight-diabetes-obesity-heart-disease/. October 17, 2018. Accessed November 5, 2018.
2. Seidelmann SB, Feofanova E, Yu B et. al. Genetic Variants in SGLT1, Glucose
Tolerance, and Cardiometabolic Risk. J Am Coll Cardiol. 2018; 72(15): 1763-1773.