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 journal › Journal article › Research › peer-review
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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