Dysfunctional nitric oxide signalling increases risk of myocardial infarction

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Jeanette Erdmann - , University of Lübeck, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Author)
  • Klaus Stark - , University of Regensburg (Author)
  • Ulrike B. Esslinger - , University of Regensburg, INSERM - Institut national de la santé et de la recherche médicale (Author)
  • Philipp Moritz Rumpf - , Technical University of Munich, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Author)
  • Doris Koesling - , Ruhr University Bochum (Author)
  • Cor DeWit - , Deutsches Zentrum für Herz-Kreislaufforschung (DZHK), University of Lübeck (Author)
  • Frank J. Kaiser - , Deutsches Zentrum für Herz-Kreislaufforschung (DZHK), University of Lübeck (Author)
  • Diana Braunholz - , University of Lübeck (Author)
  • Anja Medack - , University of Lübeck (Author)
  • Marcus Fischer - , University of Regensburg (Author)
  • Martina E. Zimmermann - , University of Regensburg (Author)
  • Stephanie Tennstedt - , University of Lübeck (Author)
  • Elisabeth Graf - , Helmholtz Centre for Environmental Research, Technical University of Munich (Author)
  • Sebastian Eck - , Helmholtz Centre for Environmental Research, Technical University of Munich (Author)
  • Zouhair Aherrahrou - , University of Lübeck, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Author)
  • Janja Nahrstaedt - , University of Lübeck (Author)
  • Christina Willenborg - , University of Lübeck, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Author)
  • Petra Bruse - , University of Lübeck (Author)
  • Ingrid Brænne - , University of Lübeck (Author)
  • Markus M. Nöthen - , University of Bonn (Author)
  • Per Hofmann - , University of Bonn, University of Basel (Author)
  • Peter S. Braund - , University of Leicester, Glenfield Hospital (Author)
  • Evanthia Mergia - , Ruhr University Bochum (Author)
  • Wibke Reinhard - , Technical University of Munich, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Author)
  • Christof Burgdorf - , Technical University of Munich (Author)
  • Stefan Schreiber - , Kiel University (Author)
  • Anthony J. Balmforth - , University of Leeds (Author)
  • Alistair S. Hall - , University of Leeds (Author)
  • Lars Bertram - , Max Planck Institute for Molecular Genetics (Author)
  • Elisabeth Steinhagen-Thiessen - , Charité – Universitätsmedizin Berlin (Author)
  • Shu Chen Li - , Chair of Lifespan Developmental Neuroscience, Max Planck Institute for Human Development (Author)
  • Winfried März - , SYNLAB International GmbH, Medical University of Graz, Heidelberg University  (Author)
  • Muredach Reilly - , University of Pennsylvania (Author)
  • Sekar Kathiresan - , Harvard University, Massachusetts Institute of Technology (MIT) (Author)
  • Ruth McPherson - , University of Ottawa (Author)
  • Ulrich Walter - , Johannes Gutenberg University Mainz, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Author)
  • Jurg Ott - , CAS - Institute of Psychology, Rockefeller University (Author)
  • Nilesh J. Samani - , University of Leicester, Glenfield Hospital (Author)
  • Tim M. Strom - , Helmholtz Centre for Environmental Research, Technical University of Munich (Author)
  • Thomas Meitinger - , Technical University of Munich, Helmholtz Centre for Environmental Research (Author)
  • Christian Hengstenberg - , Technical University of Munich, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Author)
  • Heribert Schunkert - , Technical University of Munich, Deutsches Zentrum für Herz-Kreislaufforschung (DZHK) (Author)

Abstract

Myocardial infarction, a leading cause of death in the Western world, usually occurs when the fibrous cap overlying an atherosclerotic plaque in a coronary artery ruptures. The resulting exposure of blood to the atherosclerotic material then triggers thrombus formation, which occludes the artery. The importance of genetic predisposition to coronary artery disease and myocardial infarction is best documented by the predictive value of a positive family history. Next-generation sequencing in families with several affected individuals has revolutionized mutation identification. Here we report the segregation of two private, heterozygous mutations in two functionally related genes, GUCY1A3 (p.Leu163Phefs*24) and CCT7 (p.Ser525Leu), in an extended myocardial infarction family. GUCY1A3 encodes the α1 subunit of soluble guanylyl cyclase (α1-sGC), and CCT7 encodes CCTη, a member of the tailless complex polypeptide 1 ring complex, which, among other functions, stabilizes soluble guanylyl cyclase. After stimulation with nitric oxide, soluble guanylyl cyclase generates cGMP, which induces vasodilation and inhibits platelet activation. We demonstrate in vitro that mutations in both GUCY1A3 and CCT7 severely reduce α1-sGC as well as β1-sGC protein content, and impair soluble guanylyl cyclase activity. Moreover, platelets from digenic mutation carriers contained less soluble guanylyl cyclase protein and consequently displayed reduced nitric-oxide-induced cGMP formation. Mice deficient in α1-sGC protein displayed accelerated thrombus formation in the microcirculation after local trauma. Starting with a severely affected family, we have identified a link between impaired soluble-guanylyl-cyclase- dependent nitric oxide signalling and myocardial infarction risk, possibly through accelerated thrombus formation. Reversing this defect may provide a new therapeutic target for reducing the risk of myocardial infarction.

Details

Original languageEnglish
Pages (from-to)432-436
Number of pages5
JournalNature
Volume504
Issue number7480
Publication statusPublished - 2013
Peer-reviewedYes

External IDs

PubMed 24213632
ORCID /0000-0001-8409-5390/work/142254944

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