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Article

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

Diabetologia - 1 May 2024

Vedovato Natascia, Salguero Maria V, Greeley Siri Atma W, Yu Christine H, Philipson Louis H, Ashcroft Frances M

Abstract excerpt

AIMS/HYPOTHESIS: The ATP-sensitive potassium (KATP) 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...

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Adenosine Triphosphate
Congenital Hyperinsulinism
Diabetes, Gestational
Glyburide
Potassium Channels, Inwardly Rectifying

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sulfonylurea Compounds

Sulfonylurea Receptors

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Identifiers

PMID: 38366195
DOI: 10.1007/s00125-024-06103-w
PMCID: PMC10954967

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