The KCNE genes in hypertrophic cardiomyopathy : a candidate gene study

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dc.contributor.authorHedley, Paula L.
dc.contributor.authorHavndrup, Ole
dc.contributor.authorAndersen, Paal S.
dc.contributor.authorAidt, Frederik H.
dc.contributor.authorJensen, Morten
dc.contributor.authorMoolman-Smook, Johanna C.
dc.contributor.authorBundgaard, Henning
dc.contributor.authorChristiansen, Michael
dc.date.accessioned2011-12-14T13:38:46Z
dc.date.available2011-12-14T13:38:46Z
dc.date.issued2011-10
dc.date.updated2011-11-06T06:16:20Z
dc.descriptionThe original publication is available at http://www.jnrbm.com/content/10/1/12
dc.descriptionIncludes bibliography
dc.description.abstractAbstract 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 arrhythmiaen_ZA
dc.description.versionPeer Revieweden_ZA
dc.format.extent5 p. : ill.
dc.identifier.citationHedley, P. L. et al 2011. The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study. Journal of Negative Results in BioMedicine. 03;10(1):12en_ZA
dc.identifier.issnhttp://dx.doi.org/10.1186/1477-5751-10-12
dc.identifier.urihttp://hdl.handle.net/10019.1/18171
dc.language.isoen_ZAen_ZA
dc.publisherBioMed Centralen_ZA
dc.rights.holderHedley et al.; licensee BioMed Central Ltd.en_ZA
dc.subjectHypertrophic cardiomyopathy -- Genetic aspectsen_ZA
dc.subjectArrythmia -- Genetic aspectsen_ZA
dc.subjectNucleotide sequenceen_ZA
dc.subjectGenetic polymorphismen_ZA
dc.titleThe KCNE genes in hypertrophic cardiomyopathy : a candidate gene studyen_ZA
dc.typeArticleen_ZA
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