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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation
Cardiovascular Research, Volume 89, No. 4, Year 2011
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Description
Aims: Atrial fibrillation (AF) is the most frequent arrhythmia. Screening of SCN5A - the gene encoding the α-subunit of the cardiac sodium channel - has indicated that disturbances of the sodium current may play a central role in the mechanism of lone AF. We tested the hypothesis that lone AF in young patients is associated with genetic mutations in SCN3B and SCN4B, the genes encoding the two β-subunits of the cardiac sodium channel. Methods and results: In 192 unrelated lone AF patients, the entire coding sequence and splice junctions of SCN3B and SCN4B were bidirectionally sequenced. Three non-synonymous mutations were found in SCN3B (R6K, L10P, and M161T). Two mutations were novel (R6K and M161T). None of the mutations were present in the control group (n = 432 alleles), nor have any been previously reported in conjunction with AF. All SCN3B mutations affected residues that are evolutionarily conserved across species. Electrophysiological studies on the SCN3B mutation were carried out and all three SCN3B mutations caused a functionally reduced sodium channel current. One synonymous variant was found in SCN4B. Conclusion: In 192 young lone AF patients, we found three patients with suspected disease-causing non-synonymous mutations in SCN3B, indicating that mutations in this gene contribute to the mechanism of lone AF. The three mutations in SCN3B were investigated electrophysiologically and all led to loss of function in the sodium current, supporting the hypothesis that decreased sodium current enhances AF susceptibility. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2010.
Authors & Co-Authors
Olesen, Morten Salling
Denmark, Copenhagen
Danmarks Grundforskningsfond
Denmark, Copenhagen
Rigshospitalet
Denmark, Copenhagen
Københavns Universitet
Jespersen, Thomas Sand
Denmark, Copenhagen
Danmarks Grundforskningsfond
Nielsen, Jonas Bille
Denmark, Copenhagen
Danmarks Grundforskningsfond
Denmark, Copenhagen
Rigshospitalet
Denmark, Copenhagen
Københavns Universitet
Liang, Bo
Denmark, Copenhagen
Danmarks Grundforskningsfond
Møller, Daniél Vega
Denmark, Copenhagen
Statens Serum Institut
Hedley, P. L.
Denmark, Copenhagen
Statens Serum Institut
Christiansen, Michael
Denmark, Copenhagen
Statens Serum Institut
Haunsø, Stig
Denmark, Copenhagen
Danmarks Grundforskningsfond
Denmark, Copenhagen
Rigshospitalet
Denmark, Copenhagen
Københavns Universitet
Statistics
Citations: 126
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1093/cvr/cvq348
ISSN:
17553245
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases
Study Design
Randomised Control Trial