Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome

Hum Mol Genet. 2007 Aug 15;16(16):2011-9. doi: 10.1093/hmg/ddm149. Epub 2007 Jun 21.

Abstract

Activating mutations in the genes encoding the ATP-sensitive potassium (K(ATP)) channel subunits Kir6.2 and SUR1 are a common cause of neonatal diabetes. Here, we analyse the molecular mechanism of action of the heterozygous mutation F132L, which lies in the first set of transmembrane helices (TMD0) of SUR1. This mutation causes severe developmental delay, epilepsy and permanent neonatal diabetes (DEND syndrome). We show that the F132L mutation reduces the ATP sensitivity of K(ATP) channels indirectly, by altering the intrinsic gating of the channel. Thus, the open probability is markedly increased when Kir6.2 is co-expressed with mutant TMD0 alone or with mutant SUR1. The F132L mutation disrupts the physical interaction between Kir6.2 and TMD0, but does not alter the plasmalemma channel density. Our results explain how a mutation in an accessory subunit can produce enhanced activity of the K(ATP) channel pore (formed by Kir6.2). They also provide further evidence that interactions between TMD0 of SUR1 and Kir6.2 are critical for K(ATP) channel gating and identify a residue crucial for this interaction at both physical and functional levels.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Adenosine Triphosphate / metabolism
  • Animals
  • Cells, Cultured
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / metabolism
  • Epilepsy / genetics
  • Heterozygote
  • Humans
  • Ion Channel Gating
  • Membrane Potentials / genetics
  • Membrane Potentials / physiology
  • Multidrug Resistance-Associated Proteins / genetics*
  • Multidrug Resistance-Associated Proteins / metabolism
  • Mutation*
  • Oocytes / metabolism
  • Potassium Channels, Inwardly Rectifying / genetics
  • Potassium Channels, Inwardly Rectifying / metabolism
  • Rats
  • Receptors, Drug
  • Sulfonylurea Receptors
  • Syndrome
  • Xenopus laevis / metabolism

Substances

  • ABCC8 protein, human
  • ATP-Binding Cassette Transporters
  • Abcc8 protein, rat
  • Kir6.2 channel
  • Multidrug Resistance-Associated Proteins
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Receptors
  • Adenosine Triphosphate