Nature Communications (Nov 2017)

Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome

  • Kasper Thorsen,
  • Vibeke S. Dam,
  • Kasper Kjaer-Sorensen,
  • Lisbeth N. Pedersen,
  • V. Arvydas Skeberdis,
  • Jonas Jurevičius,
  • Rimantas Treinys,
  • Ida M. B. S. Petersen,
  • Morten S. Nielsen,
  • Claus Oxvig,
  • J. Preben Morth,
  • Vladimir V. Matchkov,
  • Christian Aalkjær,
  • Henning Bundgaard,
  • Henrik K. Jensen

DOI
https://doi.org/10.1038/s41467-017-01630-0
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 10

Abstract

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Mutations in potassium and calcium channel genes have been associated with cardiac arrhythmias. Here, Jensen et al. show that an anion transporter chloride-bicarbonate exchanger AE3 is also responsible for the genetically-induced mechanism of cardiac arrhythmia, suggesting new therapeutic targets for this disease