Cargando…
The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study
BACKGROUND: The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K(+)-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of th...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3204304/ https://www.ncbi.nlm.nih.gov/pubmed/21967835 http://dx.doi.org/10.1186/1477-5751-10-12 |
_version_ | 1782215202559754240 |
---|---|
author | Hedley, Paula L Haundrup, Ole Andersen, Paal S Aidt, Frederik H Jensen, Morten Moolman-Smook, Johanna C Bundgaard, Henning Christiansen, Michael |
author_facet | Hedley, Paula L Haundrup, Ole Andersen, Paal S Aidt, Frederik H Jensen, Morten Moolman-Smook, Johanna C Bundgaard, Henning Christiansen, Michael |
author_sort | Hedley, Paula L |
collection | PubMed |
description | BACKGROUND: The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K(+)-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic disease associated with an improper hypertrophic response. RESULTS: The coding regions of KCNE1, KCNE2, KCNE3, KCNE4, and KCNE5 were examined, by direct DNA sequencing, in a cohort of 93 unrelated HCM probands and 188 blood donor controls. Fifteen genetic variants, four previously unknown, were identified in the HCM probands. Eight variants were non-synonymous and one was located in the 3'UTR-region of KCNE4. No disease-causing mutations were found and no significant difference in the frequency of genetic variants was found between HCM probands and controls. Two variants of likely functional significance were found in controls only. CONCLUSIONS: Mutations in KCNE genes are not a common cause of HCM and polymorphisms in these genes do not seem to be associated with a propensity to develop arrhythmia |
format | Online Article Text |
id | pubmed-3204304 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-32043042011-10-30 The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study Hedley, Paula L Haundrup, Ole Andersen, Paal S Aidt, Frederik H Jensen, Morten Moolman-Smook, Johanna C Bundgaard, Henning Christiansen, Michael J Negat Results Biomed Research BACKGROUND: The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K(+)-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic disease associated with an improper hypertrophic response. RESULTS: The coding regions of KCNE1, KCNE2, KCNE3, KCNE4, and KCNE5 were examined, by direct DNA sequencing, in a cohort of 93 unrelated HCM probands and 188 blood donor controls. Fifteen genetic variants, four previously unknown, were identified in the HCM probands. Eight variants were non-synonymous and one was located in the 3'UTR-region of KCNE4. No disease-causing mutations were found and no significant difference in the frequency of genetic variants was found between HCM probands and controls. Two variants of likely functional significance were found in controls only. CONCLUSIONS: Mutations in KCNE genes are not a common cause of HCM and polymorphisms in these genes do not seem to be associated with a propensity to develop arrhythmia BioMed Central 2011-10-03 /pmc/articles/PMC3204304/ /pubmed/21967835 http://dx.doi.org/10.1186/1477-5751-10-12 Text en Copyright ©2011 Hedley et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Hedley, Paula L Haundrup, Ole Andersen, Paal S Aidt, Frederik H Jensen, Morten Moolman-Smook, Johanna C Bundgaard, Henning Christiansen, Michael The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study |
title | The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study |
title_full | The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study |
title_fullStr | The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study |
title_full_unstemmed | The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study |
title_short | The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study |
title_sort | kcne genes in hypertrophic cardiomyopathy: a candidate gene study |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3204304/ https://www.ncbi.nlm.nih.gov/pubmed/21967835 http://dx.doi.org/10.1186/1477-5751-10-12 |
work_keys_str_mv | AT hedleypaulal thekcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT haundrupole thekcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT andersenpaals thekcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT aidtfrederikh thekcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT jensenmorten thekcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT moolmansmookjohannac thekcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT bundgaardhenning thekcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT christiansenmichael thekcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT hedleypaulal kcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT haundrupole kcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT andersenpaals kcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT aidtfrederikh kcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT jensenmorten kcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT moolmansmookjohannac kcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT bundgaardhenning kcnegenesinhypertrophiccardiomyopathyacandidategenestudy AT christiansenmichael kcnegenesinhypertrophiccardiomyopathyacandidategenestudy |