Genetic basis of Brugada syndrome
Brugada syndrome (BrS) is associated with the familial sudden death syndrome, and more than 10 genes have been reported as causative for or modifiers of BrS. All gene mutations are related to functional changes of inward sodium or calcium currents or outward potassium currents. SCN5A was the first g...
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doaj-f68425a19be64024b466506be77a17522020-11-25T00:08:56ZengWileyJournal of Arrhythmia1880-42762013-04-01292717610.1016/j.joa.2013.01.008Genetic basis of Brugada syndromeMinoru Horie, MD, PhDSeiko Ohno, MD, PhDBrugada syndrome (BrS) is associated with the familial sudden death syndrome, and more than 10 genes have been reported as causative for or modifiers of BrS. All gene mutations are related to functional changes of inward sodium or calcium currents or outward potassium currents. SCN5A was the first gene known to be associated with BrS; it encodes the α-subunit of the cardiac sodium channel. Approximately 20% of BrS patients in genotyped cases were found to carry SCN5A mutations. The frequency for other BrS-associated gene mutations is so low that genotype–phenotype correlations for these genes have not been studied to the same extent as SCN5A-related BrS. In some families with SCN5A mutations, the penetrance of the mutations is low, and pathophysiological changes in the right ventricular outflow tract were reported in patients with SCN5A mutations. Furthermore, the phenotypes of SCN5A-related BrS can overlap with other phenotypes, including long QT and sick sinus syndrome, thereby suggesting that SCN5A mutations might be modifiers for BrS, but they do not direct cause BrS. Here, we summarize the genetic background of BrS, with a particular focus on recent progress in this field.http://www.sciencedirect.com/science/article/pii/S188042761300015XBrugada syndromeGene mutationsSCN5AOverlap syndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Minoru Horie, MD, PhD Seiko Ohno, MD, PhD |
spellingShingle |
Minoru Horie, MD, PhD Seiko Ohno, MD, PhD Genetic basis of Brugada syndrome Journal of Arrhythmia Brugada syndrome Gene mutations SCN5A Overlap syndrome |
author_facet |
Minoru Horie, MD, PhD Seiko Ohno, MD, PhD |
author_sort |
Minoru Horie, MD, PhD |
title |
Genetic basis of Brugada syndrome |
title_short |
Genetic basis of Brugada syndrome |
title_full |
Genetic basis of Brugada syndrome |
title_fullStr |
Genetic basis of Brugada syndrome |
title_full_unstemmed |
Genetic basis of Brugada syndrome |
title_sort |
genetic basis of brugada syndrome |
publisher |
Wiley |
series |
Journal of Arrhythmia |
issn |
1880-4276 |
publishDate |
2013-04-01 |
description |
Brugada syndrome (BrS) is associated with the familial sudden death syndrome, and more than 10 genes have been reported as causative for or modifiers of BrS. All gene mutations are related to functional changes of inward sodium or calcium currents or outward potassium currents. SCN5A was the first gene known to be associated with BrS; it encodes the α-subunit of the cardiac sodium channel. Approximately 20% of BrS patients in genotyped cases were found to carry SCN5A mutations. The frequency for other BrS-associated gene mutations is so low that genotype–phenotype correlations for these genes have not been studied to the same extent as SCN5A-related BrS. In some families with SCN5A mutations, the penetrance of the mutations is low, and pathophysiological changes in the right ventricular outflow tract were reported in patients with SCN5A mutations. Furthermore, the phenotypes of SCN5A-related BrS can overlap with other phenotypes, including long QT and sick sinus syndrome, thereby suggesting that SCN5A mutations might be modifiers for BrS, but they do not direct cause BrS. Here, we summarize the genetic background of BrS, with a particular focus on recent progress in this field. |
topic |
Brugada syndrome Gene mutations SCN5A Overlap syndrome |
url |
http://www.sciencedirect.com/science/article/pii/S188042761300015X |
work_keys_str_mv |
AT minoruhoriemdphd geneticbasisofbrugadasyndrome AT seikoohnomdphd geneticbasisofbrugadasyndrome |
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