Why the study?
Does the K897T polymorphism of the KCNH2 channel affect channel function and QT interval in LQT1 patients?
Population
In vitro HEK-293 cells and 39 LQT1 patients carrying an identical KCNQ1 mutation with prolonged QT interval
Comparison
Presence of the 897T allele of the KCNH2… vs Homozygous for the 897K allele
Design
Preclinical
Authors
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K897T may modify exercise QT response in LQT1; leaves open its role as a disease modifier pending validation.
Does the K897T polymorphism of the KCNH2 channel affect channel function and QT interval in LQT1 patients?
The K897T polymorphism in the KCNH2 channel reduces channel expression and prolongs the QT interval in patients with LQT1, suggesting a modifying role in long QT syndrome.
Kristian Paavonen (2003) studied this question.
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