Does KCNE5 play a role in long QT syndrome?
Research output: Contribution to journal › Journal article › Research › peer-review
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 language | English |
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Journal | Clinica Chimica Acta |
Volume | 345 |
Issue number | 1-2 |
Pages (from-to) | 49-53 |
Number of pages | 4 |
ISSN | 0009-8981 |
DOIs | |
Publication status | Published - 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