Title of article
Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians
Author/Authors
Alessandra Doolan، نويسنده , , Neil Langlois، نويسنده , , Christine Chiu، نويسنده , , Jodie Ingles، نويسنده , , Joanne M. Lind، نويسنده , , Christopher Semsarian، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2008
Pages
4
From page
138
To page
141
Abstract
The cause of sudden death in young people remains unknown in up to 50% of postmortem cases. Mutations in the ion channel genes are known to cause primary arrhythmogenic disorders such as long QT and Brugada syndromes, which can present with sudden cardiac death and a negative autopsy. In this study, 59 sudden unexplained deaths occurring in Australians aged ≤ 35 years with a negative autopsy, from 1994–2002, were studied. Genomic DNA was extracted from paraffin-embedded tissues. Genetic analysis of the KCNQ1 and SCN5A genes was performed using denaturing high-performance liquid chromatography and direct DNA sequencing. Nine DNA sequence variants were identified in the KCNQ1 gene and 9 sequence variants were identified in the SCN5A gene. In total, 23 out of 59 cases were found to have at least one DNA variant in KCNQ1 or SCN5A, of which one, H558R in the SCN5A gene, caused an amino acid substitution. None of the DNA variants were determined to be disease causing as they were also identified in control populations. In conclusion, no disease-causing mutations were found in the KCNQ1 or SCN5A genes in this cohort. A more selective screening approach, including only individuals with a clinical or family history of arrhythmogenic disorders, may yield greater success in identifying disease-causing mutations in cohorts of young individuals who have died suddenly.
Keywords
Sudden Death , Young , Negative autopsy , kCNQ1 , SCN5A genes
Journal title
International Journal of Cardiology
Serial Year
2008
Journal title
International Journal of Cardiology
Record number
816015
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