Abstract
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Clinica Chimica Acta |
| Vol/bind | 345 |
| Udgave nummer | 1-2 |
| Sider (fra-til) | 49-53 |
| Antal sider | 4 |
| ISSN | 0009-8981 |
| DOI | |
| Status | Udgivet - 2004 |
Bibliografisk note
Copyright 2004 Elsevier B.V.Adgang til dokumentet
Citationsformater
- APA
- Standard
- Harvard
- Vancouver
- Author
- BIBTEX
- RIS
I: Clinica Chimica Acta, Bind 345, Nr. 1-2, 2004, s. 49-53.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
}
TY - JOUR
T1 - Does KCNE5 play a role in long QT syndrome?
AU - Hofman-Bang, Jacob
AU - Jespersen, Thomas
AU - Grunnet, Morten
AU - Larsen, Lars Allan
AU - Andersen, Paal Skytt
AU - Kanters, Jørgen Kim
AU - Kjeldsen, Keld
AU - Christiansen, Michael
N1 - Keywords: Action Potentials; Amino Acid Sequence; Computational Biology; DNA Mutational Analysis; Humans; Long QT Syndrome; Molecular Sequence Data; Myocytes, Cardiac; Polymorphism, Single-Stranded Conformational; Potassium Channels, Voltage-Gated; Reverse Transcriptase Polymerase Chain Reaction
PY - 2004
Y1 - 2004
N2 - BACKGROUND: Long QT syndrome [LQTS] is a congenital cardiac disease characterised by prolonged QTC-time, syncopes and sudden cardiac death. LQTS is caused by mutations in genes coding for ion channels involved in the action potential. KCNE5 codes for a novel beta-subunit of the ion channel conducting the delayed rectifier repolarizing current IKs. As KCNE5 is expressed in the human heart and suppresses the IKs current in heterologous systems, it is a candidate gene that may be mutated in LQTS families where no causative mutations in known LQTS associated genes have been found. We examined whether this was the case. METHODS: Genomic DNA from LQTS patients [n=88] and normal controls [n=90] was screened for mutations in KCNE5 by endonuclease-enhanced single strand conformation polymorphism analysis [EE-SSCP], and DNA sequencing of aberrant conformers. Mutations in other LQTS associated ion channels were excluded by SSCP. RESULTS: No mutations were found in the coding region of the KCNE5 gene in LQTS patients. One polymorphism, a T-to-C transition at nucleotide 97, causing an amino acid polymorphism P33S, was present in 16 persons, nine heterozygotes and seven homozygotes. The T-allele frequency was 0.13 in LQTS patients and 0.10 in controls.
AB - BACKGROUND: Long QT syndrome [LQTS] is a congenital cardiac disease characterised by prolonged QTC-time, syncopes and sudden cardiac death. LQTS is caused by mutations in genes coding for ion channels involved in the action potential. KCNE5 codes for a novel beta-subunit of the ion channel conducting the delayed rectifier repolarizing current IKs. As KCNE5 is expressed in the human heart and suppresses the IKs current in heterologous systems, it is a candidate gene that may be mutated in LQTS families where no causative mutations in known LQTS associated genes have been found. We examined whether this was the case. METHODS: Genomic DNA from LQTS patients [n=88] and normal controls [n=90] was screened for mutations in KCNE5 by endonuclease-enhanced single strand conformation polymorphism analysis [EE-SSCP], and DNA sequencing of aberrant conformers. Mutations in other LQTS associated ion channels were excluded by SSCP. RESULTS: No mutations were found in the coding region of the KCNE5 gene in LQTS patients. One polymorphism, a T-to-C transition at nucleotide 97, causing an amino acid polymorphism P33S, was present in 16 persons, nine heterozygotes and seven homozygotes. The T-allele frequency was 0.13 in LQTS patients and 0.10 in controls.
U2 - 10.1016/j.cccn.2004.02.033
DO - 10.1016/j.cccn.2004.02.033
M3 - Journal article
C2 - 15193977
SN - 0009-8981
VL - 345
SP - 49
EP - 53
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
IS - 1-2
ER -