Does KCNE5 play a role in long QT syndrome?

Research output: Contribution to journalJournal articleResearchpeer-review

Jacob Hofman-Bang, Thomas Jespersen, Morten Grunnet, Lars Allan Larsen, Paal Skytt Andersen, Jørgen Kim Kanters, Keld Kjeldsen, Michael Christiansen

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.
Original languageEnglish
JournalClinica Chimica Acta
Volume345
Issue number1-2
Pages (from-to)49-53
Number of pages4
ISSN0009-8981
DOIs
Publication statusPublished - 2004

Bibliographical note

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

ID: 8418861