Diabetes Metab J.  2013 Jun;37(3):157-164. 10.4093/dmj.2013.37.3.157.

Neonatal Diabetes Caused by Activating Mutations in the Sulphonylurea Receptor

Affiliations
  • 1Henry Wellcome Centre for Gene Function, Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK. peter.proks@dpag.ox.ac.uk

Abstract

Adenosine triphosphate (ATP)-sensitive potassium (KATP) channels in pancreatic beta-cells play a crucial role in insulin secretion and glucose homeostasis. These channels are composed of two subunits: a pore-forming subunit (Kir6.2) and a regulatory subunit (sulphonylurea receptor-1). Recent studies identified large number of gain of function mutations in the regulatory subunit of the channel which cause neonatal diabetes. Majority of mutations cause neonatal diabetes alone, however some lead to a severe form of neonatal diabetes with associated neurological complications. This review focuses on the functional effects of these mutations as well as the implications for treatment.

Keyword

ABC transporter; Insulin secretion; KATP channels; Kir6.2; Neonatal diabetes; Pancreatic beta-cell; Sulphonylurea receptor; Sulphonylureas

MeSH Terms

Adenosine Triphosphate
Glucose
Homeostasis
Insulin
KATP Channels
Polyphosphates
Potassium
Adenosine Triphosphate
Glucose
Insulin
KATP Channels
Polyphosphates
Potassium
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