Open AccessActivating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes
Author(s) -
Anna L. Gloyn,
Ewan R. Pearson,
Jennifer F. Antcliff,
Peter Proks,
G.J. Bruining,
Annabelle S. Slingerland,
Neville J. Howard,
Shubha Srinivasan,
Jose M. C. L Silva,
Janne Molnes,
Emma L. Edghill,
Timothy M. Frayling,
I. Karen Temple,
Deborah Mackay,
Julian HamiltonShield,
Zdenĕk Šumnı́k,
Adrian van Rhijn,
J K Wales,
P M Clark,
Shaun Gorman,
Javier Aisenberg,
Sian Ellard,
Pål R. Njølstad,
Frances M. Ashcroft,
Andrew T. Hattersley
Publication year - 2004
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa032922
Subject(s) - sulfonylurea receptor , medicine , endocrinology , kir6.2 , tolbutamide , diabetes mellitus , sulfonylurea , insulin , missense mutation , potassium channel , mutation , biology , gene , genetics , protein subunit , glibenclamide
Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, we hypothesized that activating mutations in the gene encoding the Kir6.2 subunit of this channel (KCNJ11) cause neonatal diabetes.
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