Key result
Coexpression of the A280V GPD1-L mutation with SCN5A reduced inward Na+ currents by approximately 50% (P<0.005) and decreased SCN5A cell surface expression by 31% (P=0.01).
Population
Large family with Brugada syndrome, >500 control subjects, and HEK cell models
Comparison
A280V mutation in GPD1-L gene vs Wild-type GPD1-L
Design
Preclinical
Authors
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SCN5A mutations linked to Brugada; leaves open prevalence, mechanisms, and clinical translation.
Effect estimate: approximately 50% reduction
p-value: p=<0.005
The A280V mutation in the GPD1-L gene decreases SCN5A surface membrane expression and inward Na+ current, identifying it as a novel genetic cause of Brugada syndrome.
London et al. (2007) studied Brugada syndrome. A280V mutation in GPD1-L gene vs. Wild-type GPD1-L was evaluated on Inward Na+ currents (approximately 50% reduction, p=<0.005). Coexpression of the A280V GPD1-L mutation with SCN5A reduced inward Na+ currents by approximately 50% (P<0.005) and decreased SCN5A cell surface expression by 31% (P=0.01).
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