ESPE Abstracts

Background: In 2007, non-coding variants in the promoter of SLC16A1, a beta-cell disallowed gene, were reported as a novel genetic cause of exercise-induced hyperinsulinism (HI). In this study, three different promoter variants were identified in 13 affected individuals from three families. It was proposed that these variants caused MCT1, which is encoded by SLC16A1, to be inappropriately expressed in the pancreatic beta cells resulting in insulin secretion in...