TY - JOUR
T1 - The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study
AU - Hedley, Paula L
AU - Haundrup, Ole
AU - Andersen, Paal S
AU - Aidt, Frederik Heurlin
AU - Jensen, Morten
AU - Moolman-Smook, Johanna C
AU - Bundgaard, Henning
AU - Christiansen, Michael
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
U2 - 10.1186/1477-5751-10-12
DO - 10.1186/1477-5751-10-12
M3 - Journal article
C2 - 21967835
SN - 1477-5751
VL - 10
SP - 12
JO - Journal of Negative Results in BioMedicine
JF - Journal of Negative Results in BioMedicine
ER -