Key result
Decreased activity of Nav 1.5 and alterations in its biophysical properties contribute to the pathogenesis of Brugada syndrome, with mutation-specific influences from pharmacological agents.
This review provides a comprehensive summary of the molecular and cellular mechanisms underlying Brugada syndrome subtype 1, specifically focusing on SCN5A mutations and Nav 1.5 channel dysfunction.
Enhances SCN5A mechanism framework in Brugada syndrome; leaves open genotype-guided therapies pending validation.
Brugada syndrome is a rare hereditary arrhythmogenic disorder first described by Brugada brothers in 1992. Despite the large amount of clinical and experimental data, there is no complete understanding of genotype-phenotype relation in pathogenesis of the disease caused by missence mutations in SCN5A, which encodes the alpha-subunit of the major cardiac voltage-gated sodium channel Nav 1.5. The aim of this review is to summarize current knowledge on molecular, cellular and ionic mechanisms of the Brugada syndrome development. We focused on the clinical picture and physiological consequences of decreasing activity of Nav 1.5 and analyzed the impact of biophysical properties alterations on the pathological state. The mutation-specific influence of pharmacological agents and signalling proteins was described.
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Zaytseva et al. (2017) conducted a review in Brugada syndrome. Decreased activity of Nav 1.5 and alterations in its biophysical properties contribute to the pathogenesis of Brugada syndrome, with mutation-specific influences from pharmacological agents.
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