Celebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels Kv 7.1 and Kv 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes

Acta Physiol (Oxf). 2022 Mar;234(3):e13781. doi: 10.1111/apha.13781. Epub 2022 Jan 22.

Abstract

Voltage-gated potassium (Kv ) channels play an important role in the repolarization of a variety of excitable tissues, including in the cardiomyocyte and the pancreatic beta cell. Recently, individuals carrying loss-of-function (LoF) mutations in KCNQ1, encoding Kv 7.1, and KCNH2 (hERG), encoding Kv 11.1, were found to exhibit post-prandial hyperinsulinaemia and episodes of hypoglycaemia. These LoF mutations also cause the cardiac disorder long QT syndrome (LQTS), which can be aggravated by hypoglycaemia. Interestingly, patients with LQTS also have a higher burden of diabetes compared to the background population, an apparent paradox in relation to the hyperinsulinaemic phenotype, and KCNQ1 has been identified as a type 2 diabetes risk gene. This review article summarizes the involvement of delayed rectifier K+ channels in pancreatic beta cell function, with emphasis on Kv 7.1 and Kv 11.1, using the cardiomyocyte for context. The functional and clinical consequences of LoF mutations and polymorphisms in these channels on blood glucose homeostasis are explored using evidence from pre-clinical, clinical and genome-wide association studies, thereby evaluating the link between LQTS, hyperinsulinaemia and type 2 diabetes.

Keywords: KCNH2; KCNQ1; Kv; cardiac; delayed rectifier; glucose homeostasis; insulin; pancreatic islet.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diabetes Mellitus, Type 2* / genetics
  • ERG1 Potassium Channel* / genetics
  • Genome-Wide Association Study
  • Humans
  • Hyperinsulinism* / genetics
  • Hypoglycemia* / genetics
  • Insulin-Secreting Cells* / metabolism
  • KCNQ1 Potassium Channel* / genetics
  • KCNQ1 Potassium Channel* / metabolism
  • Long QT Syndrome* / genetics
  • Long QT Syndrome* / metabolism
  • Mutation

Substances

  • ERG1 Potassium Channel
  • KCNH2 protein, human
  • KCNQ1 Potassium Channel
  • KCNQ1 protein, human