Key result
The LQT5 mutation T58P/L59P causes severe attenuation of the IKs current through a novel mechanism involving defective KCNQ1/KCNE1 complex assembly.
Population
Chinese Hamster Ovary-K1 (CHO-K1) and Human embryonic kidney (HEK)-293 cells expressing KCNQ1 and KCNE1
Comparison
Expression of long QT syndrome type 5 KCNE1… vs Expression of wild-type KCNE1
Design
Preclinical
Authors
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May guide assembly-targeted LQT5 therapies; hypothesis-generating and requires human validation before any clinical consideration.
p-value: p=<0.05
The LQT5 mutation T58P/L59P causes disease through a novel mechanism involving defective assembly of the I(Ks) channel complex, rather than solely altering channel kinetics or trafficking.
Harmer et al. (2009) studied Long QT syndrome type 5. KCNE1 T58P/L59P mutation vs. Wild-type KCNE1 was evaluated on IKs current density and KCNQ1/KCNE1 complex assembly (p=<0.05). The LQT5 mutation T58P/L59P causes severe attenuation of the IKs current through a novel mechanism involving defective KCNQ1/KCNE1 complex assembly.
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