KCNE3 mutation V17M identified in a patient with lone atrial fibrillation.

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KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. / Lundby, Alicia; Ravn, Lasse Steen; Svendsen, Jesper Hastrup; Hauns, Stig; Olesen, Søren-Peter; Schmitt, Nicole.

In: Cellular Physiology and Biochemistry, Vol. 21, No. 1-3, 2008, p. 47-54.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Lundby, A, Ravn, LS, Svendsen, JH, Hauns, S, Olesen, S-P & Schmitt, N 2008, 'KCNE3 mutation V17M identified in a patient with lone atrial fibrillation.', Cellular Physiology and Biochemistry, vol. 21, no. 1-3, pp. 47-54. https://doi.org/10.1159/000113746

APA

Lundby, A., Ravn, L. S., Svendsen, J. H., Hauns, S., Olesen, S-P., & Schmitt, N. (2008). KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. Cellular Physiology and Biochemistry, 21(1-3), 47-54. https://doi.org/10.1159/000113746

Vancouver

Lundby A, Ravn LS, Svendsen JH, Hauns S, Olesen S-P, Schmitt N. KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. Cellular Physiology and Biochemistry. 2008;21(1-3):47-54. https://doi.org/10.1159/000113746

Author

Lundby, Alicia ; Ravn, Lasse Steen ; Svendsen, Jesper Hastrup ; Hauns, Stig ; Olesen, Søren-Peter ; Schmitt, Nicole. / KCNE3 mutation V17M identified in a patient with lone atrial fibrillation. In: Cellular Physiology and Biochemistry. 2008 ; Vol. 21, No. 1-3. pp. 47-54.

Bibtex

@article{bbf8b1f0e92211dcbee902004c4f4f50,
title = "KCNE3 mutation V17M identified in a patient with lone atrial fibrillation.",
abstract = "BACKGROUND: Atrial fibrillation (AF) is the most common cardiac rhythm disorder with a lifetime risk for development of 25{\%} for people aged 40 or older. In this study we aim for the functional assessment of a mutation in KCNE3 identified in a proband with early-onset lone AF. METHODS: Screening of genomic DNA from the proband led to identification of a KCNE3 V17M missense mutation. We heterologously expressed the accessory channel subunit in Xenopus laevis oocytes together with its known interacting potassium channel alpha-subunits. Further, we applied RT-PCR on human total RNA from left and right atria and ventricle. RESULTS: Electrophysiological recordings revealed an increased activity of Kv4.3/KCNE3 and Kv11.1/KCNE3 generated currents by the mutation, thereby conferring susceptibility of mutation carriers to faster cardiac action potential repolarization and thus vulnerability to re-entrant wavelets in the atria and thereby AF. CONCLUSION: Here we report a novel mutation in KCNE3 identified in a proband with early-onset lone AF possibly leading to gain-of-function of several cardiac currents. We suggest abnormalities in the KCNE3 gene as a potential genetic risk factor for initiation and/or maintenance of AF. Udgivelsesdato: 2008-null",
author = "Alicia Lundby and Ravn, {Lasse Steen} and Svendsen, {Jesper Hastrup} and Stig Hauns and S{\o}ren-Peter Olesen and Nicole Schmitt",
year = "2008",
doi = "10.1159/000113746",
language = "English",
volume = "21",
pages = "47--54",
journal = "Cellular Physiology and Biochemistry",
issn = "1015-8987",
publisher = "S Karger AG",
number = "1-3",

}

RIS

TY - JOUR

T1 - KCNE3 mutation V17M identified in a patient with lone atrial fibrillation.

AU - Lundby, Alicia

AU - Ravn, Lasse Steen

AU - Svendsen, Jesper Hastrup

AU - Hauns, Stig

AU - Olesen, Søren-Peter

AU - Schmitt, Nicole

PY - 2008

Y1 - 2008

N2 - BACKGROUND: Atrial fibrillation (AF) is the most common cardiac rhythm disorder with a lifetime risk for development of 25% for people aged 40 or older. In this study we aim for the functional assessment of a mutation in KCNE3 identified in a proband with early-onset lone AF. METHODS: Screening of genomic DNA from the proband led to identification of a KCNE3 V17M missense mutation. We heterologously expressed the accessory channel subunit in Xenopus laevis oocytes together with its known interacting potassium channel alpha-subunits. Further, we applied RT-PCR on human total RNA from left and right atria and ventricle. RESULTS: Electrophysiological recordings revealed an increased activity of Kv4.3/KCNE3 and Kv11.1/KCNE3 generated currents by the mutation, thereby conferring susceptibility of mutation carriers to faster cardiac action potential repolarization and thus vulnerability to re-entrant wavelets in the atria and thereby AF. CONCLUSION: Here we report a novel mutation in KCNE3 identified in a proband with early-onset lone AF possibly leading to gain-of-function of several cardiac currents. We suggest abnormalities in the KCNE3 gene as a potential genetic risk factor for initiation and/or maintenance of AF. Udgivelsesdato: 2008-null

AB - BACKGROUND: Atrial fibrillation (AF) is the most common cardiac rhythm disorder with a lifetime risk for development of 25% for people aged 40 or older. In this study we aim for the functional assessment of a mutation in KCNE3 identified in a proband with early-onset lone AF. METHODS: Screening of genomic DNA from the proband led to identification of a KCNE3 V17M missense mutation. We heterologously expressed the accessory channel subunit in Xenopus laevis oocytes together with its known interacting potassium channel alpha-subunits. Further, we applied RT-PCR on human total RNA from left and right atria and ventricle. RESULTS: Electrophysiological recordings revealed an increased activity of Kv4.3/KCNE3 and Kv11.1/KCNE3 generated currents by the mutation, thereby conferring susceptibility of mutation carriers to faster cardiac action potential repolarization and thus vulnerability to re-entrant wavelets in the atria and thereby AF. CONCLUSION: Here we report a novel mutation in KCNE3 identified in a proband with early-onset lone AF possibly leading to gain-of-function of several cardiac currents. We suggest abnormalities in the KCNE3 gene as a potential genetic risk factor for initiation and/or maintenance of AF. Udgivelsesdato: 2008-null

U2 - 10.1159/000113746

DO - 10.1159/000113746

M3 - Journal article

C2 - 18209471

VL - 21

SP - 47

EP - 54

JO - Cellular Physiology and Biochemistry

JF - Cellular Physiology and Biochemistry

SN - 1015-8987

IS - 1-3

ER -

ID: 2983127