Hugues Abriel, MD, PhD

(Group leader)

Hugues Abriel studied life sciences at the Swiss Federal Institute of Technology in Zurich (ETHZ, 1989). He continued his education to become a physician (MD, 1994) and received a PhD degree in Physiology from the University of Lausanne in Switzerland (1995). He has spent two years as a research scientist at Columbia University in New York, USA. Hugues Abriel has been a group leader (2002-2009) at the Department of Pharmacology and Toxicology at the University of Lausanne thanks to a professorship from the Swiss National Science Foundation (SNF-Professor). Since April 2009, he is the Director of the Department of Clinical Research of the University of Bern at the Inselspital, and professor of pathophysiology. His research work focuses on the roles of ion channels in human diseases (channelopathies). Currently, he is mainly exploring the genetic, molecular and cellular bases of cardiac arrhythmias.

Contact

Prof. Hugues Abriel, MD PhD
Director, Department of Clinical Research
Groupleader Ion Channel Research

University of Bern
Department of Clinical Research
MEM H 821
Murtenstrasse 35
3010 Bern
Switzerland

Phone	+41 31 632 09 28
Fax	+41 31 632 09 46
E-Mail	hugues.abriel@dkf.unibe.ch

Secretary

Verena Frazao

Phone	+41 31 632 09 98
Fax	+41 31 632 09 46
E-Mail	verena.frazao@dkf.unibe.ch

Ion Channel Research Group

Department of Clinical Research, University of Bern

Research Focus

The main focus of the Abriel laboratory is to investigate mechanisms underlying human diseases caused by dysfunction of ion channels, so-called channelopathies. In particular, one of the main objectives is to elucidate novel molecular and cellular mechanisms of cardiac arrhythmias causing sudden death. To this end, on the one hand, our group investigates ion channel mutations found in patients and families presenting with genetic forms of lethal arrhythmias such as the congenital long QT syndrome and Brugada syndrome. On the other hand, we are studying new types of regulation of cardiac ion channels relevant to arrhythmogenic mechanisms.

Fig. 1 Schematic presentation of the cardiac action potential and the three main ion channels that we are currently studying in the laboratory. The channel Nav1.5 mediates the rapid depolarization of the membrane, whereas the hERG and KCNQ1 channels are involved in the repolarization of the cardiac cell.

Keywords:

sodium channel,
potassium channel,
hERG channel,
cardiac electrophysiology,
congenital long QT syndrome,
Brugada syndrome

E-Mail valentin.sottas@dkf.unibe.ch
Phone +41 31 632 86 88

Selected Publications

Original Articles

Templin C, Ghadri JR, Rougier J-S, Baumer A, Kaplan V, Albesa M, Sticht H, Rauch A, Puleo C, Hu D, Barajas-Martinez H, Antzelevitch C, Luscher TF, Abriel H, & Duru F. (2011) Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome. Eur Heart Journal 32(9):1077-88
Petitprez S, Zmoos AF, Ogrodnik J, Balse E, Raad N, El-Haou S, Albesa M, Bittihn P, Luther S, Lehnart SE, Hatem SN, Coulombe A, & Abriel H (2011). SAP97 and Dystrophin Macromolecular Complexes Determine Two Pools of Cardiac Sodium Channels Nav1.5 in Cardiomyocytes. Circ Res 108:294-304.
Albesa M, Ogrodnik J, Rougier J-S, & Abriel H. (2011) Regulation of the cardiac sodium channel Nav1.5 by utrophin in dystrophin-deficient mice. Cardiovascular Research 89(2):320-328.
Leoni AL, Gavillet B, Rougier JS, Marionneau C, Probst V, Le SS, Schott JJ, Demolombe S, Bruneval P, Huang CL, Colledge WH, Grace AA, Le MH, Wilde AA, Mohler PJ, Escande D, Abriel H, & Charpentier F (2010). Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model. PLoS One 5, e9298.
Grilo LS, Pruvot E, Grobety M, Castella V, Fellmann F, & Abriel H (2010). Takotsubo cardiomyopathy and congenital long QT syndrome in a patient with a novel duplication in the Per-Arnt-Sim (PAS) domain of hERG1. Heart Rhythm 7, 260-265.
Berthonneche C, Peter B, Schupfer F, Hayoz P, Kutalik Z, Abriel H, Pedrazzini T, Beckmann JS, Bergmann S, & Maurer F (2009). Cardiovascular response to beta-adrenergic blockade or activation in 23 inbred mouse strains. PLoS One 4, e6610.
El-Haou S, Balse E, Neyroud N, Dilanian G, Gavillet B, Abriel H, Coulombe A, Jeromin A, & Hatem SN (2009). Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes. Circ Res 104, 758-769.
Petitprez S, Tiab L, Chen L, Kappeler L, Rosler KM, Schorderet D, Abriel H, & Burgunder JM (2008). A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. Neurology 71, 1669-1675.
Eap CB, Crettol S, Rougier JS, Schlapfer J, Sintra GL, Deglon JJ, Besson J, Croquette-Krokar M, Carrupt PA, & Abriel H (2007). Stereoselective block of hERG channel by (S)-methadone and QT interval prolongation in CYP2B6 slow metabolizers. Clin Pharmacol Ther 81, 719-728.
Gavillet B, Rougier JS, Domenighetti AA, Behar R, Boixel C, Ruchat P, Lehr HA, Pedrazzini T, & Abriel H (2006). Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin. Circ Res 99, 407-414.
Keller DI, Rougier JS, Kucera JP, Benammar N, Fressart V, Guicheney P, Madle A, Fromer M, Schlapfer J, & Abriel H (2005). Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc Res 67, 510-519.
van Bemmelen MX, Rougier JS, Gavillet B, Apotheloz F, Daidie D, Tateyama M, Rivolta I, Thomas MA, Kass RS, Staub O, & Abriel H (2004). Cardiac voltage-gated sodium channel Nav1.5 is regulated by Nedd4-2 mediated ubiquitination. Circ Res 95, 284-291.

Review Articles

Rougier JS, Albesa M, & Abriel H (2010). Ubiquitylation and SUMOylation of Cardiac Ion Channels. J Cardiovasc Pharmacol 56(1):22-8.
Abriel H (2010). Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology. J Mol Cell Cardiol 48, 2-11.
Abriel H (2007). Roles and regulation of the cardiac sodium channel Na(v)1.5: recent insights from experimental studies. Cardiovasc Res 76, 381-389.
Abriel H & Kass RS (2005). Regulation of the voltage-gated cardiac sodium channel Nav1.5 by interacting proteins. Trends Cardiovasc Med 15, 35-40.
Abriel H & Staub O (2005). Ubiquitylation of ion channels. Physiology (Bethesda ) 20, 398-407.
Abriel H, Schlapfer J, Keller DI, Gavillet B, Buclin T, Biollaz J, Stoller R, & Kappenberger L (2004). Molecular and clinical determinants of drug-induced long QT syndrome: an iatrogenic channelopathy. Swiss Med Wkly 134, 685-694.