Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients.
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Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients. / Nielsen, Nathalie H; Winkel, Bo G; Kanters, Jørgen K; Schmitt, Nicole; Hofman-Bang, Jacob; Jensen, Henrik S; Bentzen, Bo H; Sigurd, Bjarne; Larsen, Lars Allan; Andersen, Paal S; Kjeldsen, Keld; Grunnet, Morten; Christiansen, Michael; Olesen, Søren-Peter; Haunsø, Stig.
I: Biochemical and Biophysical Research Communications, Bind 354, Nr. 3, 2007, s. 776-82.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients.
AU - Nielsen, Nathalie H
AU - Winkel, Bo G
AU - Kanters, Jørgen K
AU - Schmitt, Nicole
AU - Hofman-Bang, Jacob
AU - Jensen, Henrik S
AU - Bentzen, Bo H
AU - Sigurd, Bjarne
AU - Larsen, Lars Allan
AU - Andersen, Paal S
AU - Kjeldsen, Keld
AU - Grunnet, Morten
AU - Christiansen, Michael
AU - Olesen, Søren-Peter
AU - Haunsø, Stig
N1 - Keywords: Cells, Cultured; Child; Cloning, Molecular; Electrophysiology; Female; Heart Arrest; Humans; Kv1.5 Potassium Channel; Male; Middle Aged; Mutation; Myocytes, Cardiac; Phenotype; Potassium Channels, Voltage-Gated; Time Factors
PY - 2007
Y1 - 2007
N2 - Mutations in one of the ion channels shaping the cardiac action potential can lead to action potential prolongation. However, only in a minority of cardiac arrest cases mutations in the known arrhythmia-related genes can be identified. In two patients with arrhythmia and cardiac arrest, we identified the point mutations P91L and E33V in the KCNA5 gene encoding the Kv1.5 potassium channel that has not previously been associated with arrhythmia. We functionally characterized the mutations in HEK293 cells. The mutated channels behaved similarly to the wild-type with respect to biophysical characteristics and drug sensitivity. Both patients also carried a D85N polymorphism in KCNE1, which was neither found to influence the Kv1.5 nor the Kv7.1 channel activity. We conclude that although the two N-terminal Kv1.5 mutations did not show any apparent electrophysiological phenotype, it is possible that they may influence other cellular mechanisms responsible for proper electrical behaviour of native cardiomyocytes. Udgivelsesdato: 2007-Mar-16
AB - Mutations in one of the ion channels shaping the cardiac action potential can lead to action potential prolongation. However, only in a minority of cardiac arrest cases mutations in the known arrhythmia-related genes can be identified. In two patients with arrhythmia and cardiac arrest, we identified the point mutations P91L and E33V in the KCNA5 gene encoding the Kv1.5 potassium channel that has not previously been associated with arrhythmia. We functionally characterized the mutations in HEK293 cells. The mutated channels behaved similarly to the wild-type with respect to biophysical characteristics and drug sensitivity. Both patients also carried a D85N polymorphism in KCNE1, which was neither found to influence the Kv1.5 nor the Kv7.1 channel activity. We conclude that although the two N-terminal Kv1.5 mutations did not show any apparent electrophysiological phenotype, it is possible that they may influence other cellular mechanisms responsible for proper electrical behaviour of native cardiomyocytes. Udgivelsesdato: 2007-Mar-16
U2 - 10.1016/j.bbrc.2007.01.048
DO - 10.1016/j.bbrc.2007.01.048
M3 - Journal article
C2 - 17266934
VL - 354
SP - 776
EP - 782
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 3
ER -
ID: 2982889