A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.

ABSTRACT:

Aims/hypothesis

The ATP-sensitive potassium (K_ATP) channel couples beta cell electrical activity to glucose-stimulated insulin secretion. Loss-of-function mutations in either the pore-forming (inwardly rectifying potassium channel 6.2 [Kir6.2], encoded by KCNJ11) or regulatory (sulfonylurea receptor 1, encoded by ABCC8) subunits result in congenital hyperinsulinism, whereas gain-of-function mutations cause neonatal diabetes. Here, we report a novel loss-of-function mutation (Ser118Leu) in the pore helix of Kir6.2 paradoxically associated with sulfonylurea-sensitive diabetes that presents in early adult life.

Methods

A 31-year-old woman was diagnosed with mild hyperglycaemia during an employee screen. After three pregnancies, during which she was diagnosed with ges

SUBMITTER: Vedovato N 

PROVIDER: S-EPMC10954967 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature