Activating mutations in the ABCC8 gene in neonatal diabetes mellitus by Babenko Andrey P, Polak Michel, Cavé Hélène, Busiah Kanetee, Czernichow Paul, Scharfmann Raphael, Bryan Joseph, Aguilar-Bryan Lydia, Vaxillaire Martine, Froguel Philippe in The New England journal of medicine (2006). PubMed

Abstract

The ATP-sensitive potassium (K(ATP)) channel, composed of the beta-cell proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6.2, is a key regulator of insulin release. It is inhibited by the binding of adenine nucleotides to subunit Kir6.2, which closes the channel, and activated by nucleotide binding or hydrolysis on SUR1, which opens the channel. The balance of these opposing actions determines the low open-channel probability, P(O), which controls the excitability of pancreatic beta cells. We hypothesized that activating mutations in ABCC8, which encodes SUR1, cause neonatal diabetes.

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