Inherited Brugada and Long QT-3 Syndrome Mutations of a Single Residue of the Cardiac Sodium Channel Confer Distinct Channel and Clinical Phenotypes
Population
HEK 293 cells expressing SCN5A mutations Y1795C (LQT-3) and Y1795H (BrS)
Comparison
Expression of Y1795C and Y1795H mutations vs Wild type (WT) channels
Design
Preclinical
Authors
Discussion
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Member takes
Implication
Y1795 mutations may underlie divergent LQT-3/Brugada phenotypes via gating changes; leaves open human validation and therapeutic translation.
Structured PICO
P
Population
HEK 293 cells expressing SCN5A mutations Y1795C (LQT-3) and Y1795H (BrS)
I
Intervention
Expression of Y1795C and Y1795H mutations
C
Comparator
Wild type (WT) channels
O
Outcome
Channel gating characteristics (onset of inactivation, voltage dependence of inactivation, recovery from inactivation, sustained Na+ channel activity)surrogate
Mutations at the same residue of the cardiac sodium channel (Y1795C and Y1795H) produce distinct biophysical effects that explain the divergent clinical phenotypes of LQT-3 and Brugada syndrome.
Cite This Study
Rivolta et al. (2001) studied this question.