Novel SCN3B Mutation Associated With Brugada Syndrome Affects Intracellular Trafficking and Function of Nav1.5
Why the study?
Is the SCN3B mutation associated with SCN5A-negative Brugada syndrome and what is its functional impact?
Population
181 unrelated Brugada syndrome patients negative for SCN5A mutations, and 480 Japanese controls. Also…
Comparison
Genetic screening for SCN3B mutations and… vs 480 Japanese controls without Brugada syndrome.
Design
Case-control
Authors
Discussion
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Member takes
Implication
SCN3B variants may contribute to SCN5A-negative Brugada syndrome in Japanese patients; leaves open validation in larger, multi-ethnic cohorts before diagnostic use.
Structured PICO
Is the SCN3B mutation associated with SCN5A-negative Brugada syndrome and what is its functional impact?
P
Population
181 unrelated Brugada syndrome patients (178 Japanese, 3 Koreans) negative for SCN5A mutations, and 480 Japanese controls. Also includes transfected cells for functional studies.
I
Intervention
Genetic screening for SCN3B mutations and functional analysis of identified mutations.
C
Comparator
480 Japanese controls without Brugada syndrome.
O
Outcome
Presence of SCN3B mutations and their functional impact on Nav1.5 trafficking and sodium currents.surrogate
The Val110Ile mutation in SCN3B is a relatively common cause of SCN5A-negative Brugada syndrome in Japan, leading to reduced sodium currents.
Cite This Study
Ishikawa et al. (2012) studied this question.