Cargando…
Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients
Brugada Syndrome (BS) is an inherited channelopathy associated with a high incidence of sudden cardiac death. The paper presents the discovery of new genetic variants of SCN5A gene which might be associated with the development of a concealed form of Brugada Syndrome. The study involved a group of 5...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220633/ https://www.ncbi.nlm.nih.gov/pubmed/25401102 http://dx.doi.org/10.1155/2014/462609 |
_version_ | 1782342763056988160 |
---|---|
author | Uziębło-Życzkowska, Beata Gielerak, Grzegorz Siedlecki, Paweł Pająk, Beata |
author_facet | Uziębło-Życzkowska, Beata Gielerak, Grzegorz Siedlecki, Paweł Pająk, Beata |
author_sort | Uziębło-Życzkowska, Beata |
collection | PubMed |
description | Brugada Syndrome (BS) is an inherited channelopathy associated with a high incidence of sudden cardiac death. The paper presents the discovery of new genetic variants of SCN5A gene which might be associated with the development of a concealed form of Brugada Syndrome. The study involved a group of 59 patients (37 men) with suspected concealed form of Brugada Syndrome. Pharmacological provocation with intravenous ajmaline administration was performed. Six patients with positive test results were subjected to molecular analysis of SCN5A gene with MSSCP method. Additionally, MSSCP genotyping was performed for samples obtained from the family members with Brugada Syndrome, despite the fact that they had negative ajmaline challenge test results. Genetic examinations of the SCN5A gene at 6 positive patients showed 6 known polymorphisms, 8 new single nucleotide point (SNP) variants located at exons, and 12 new single nucleotide point variants located at introns. Among new SNPs localized in SCN5A gene exons three SNPs affected the protein sequence. |
format | Online Article Text |
id | pubmed-4220633 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-42206332014-11-16 Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients Uziębło-Życzkowska, Beata Gielerak, Grzegorz Siedlecki, Paweł Pająk, Beata Biomed Res Int Research Article Brugada Syndrome (BS) is an inherited channelopathy associated with a high incidence of sudden cardiac death. The paper presents the discovery of new genetic variants of SCN5A gene which might be associated with the development of a concealed form of Brugada Syndrome. The study involved a group of 59 patients (37 men) with suspected concealed form of Brugada Syndrome. Pharmacological provocation with intravenous ajmaline administration was performed. Six patients with positive test results were subjected to molecular analysis of SCN5A gene with MSSCP method. Additionally, MSSCP genotyping was performed for samples obtained from the family members with Brugada Syndrome, despite the fact that they had negative ajmaline challenge test results. Genetic examinations of the SCN5A gene at 6 positive patients showed 6 known polymorphisms, 8 new single nucleotide point (SNP) variants located at exons, and 12 new single nucleotide point variants located at introns. Among new SNPs localized in SCN5A gene exons three SNPs affected the protein sequence. Hindawi Publishing Corporation 2014 2014-10-20 /pmc/articles/PMC4220633/ /pubmed/25401102 http://dx.doi.org/10.1155/2014/462609 Text en Copyright © 2014 Beata Uziębło-Życzkowska et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Uziębło-Życzkowska, Beata Gielerak, Grzegorz Siedlecki, Paweł Pająk, Beata Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients |
title | Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients |
title_full | Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients |
title_fullStr | Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients |
title_full_unstemmed | Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients |
title_short | Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients |
title_sort | genetic diversity of scn5a gene and its possible association with the concealed form of brugada syndrome development in polish group of patients |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220633/ https://www.ncbi.nlm.nih.gov/pubmed/25401102 http://dx.doi.org/10.1155/2014/462609 |
work_keys_str_mv | AT uziebłozyczkowskabeata geneticdiversityofscn5ageneanditspossibleassociationwiththeconcealedformofbrugadasyndromedevelopmentinpolishgroupofpatients AT gielerakgrzegorz geneticdiversityofscn5ageneanditspossibleassociationwiththeconcealedformofbrugadasyndromedevelopmentinpolishgroupofpatients AT siedleckipaweł geneticdiversityofscn5ageneanditspossibleassociationwiththeconcealedformofbrugadasyndromedevelopmentinpolishgroupofpatients AT pajakbeata geneticdiversityofscn5ageneanditspossibleassociationwiththeconcealedformofbrugadasyndromedevelopmentinpolishgroupofpatients |