MOLECULAR MECHANISMS OF BRUGADA SYNDOME SUBTYPE 1
https://doi.org/10.18705/2311-4495-2017-4-4-23-35
Abstract
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.
About the Authors
A. K. Zaytseva
Almazov National Medical Research Centre;
Saint Petersburg University
Russian Federation
Russian Federation
young research fellow,
Akkuratova str. 2, Saint Petersburg, 197341
A. V. Karpushev
Almazov National Medical Research Centre
Russian Federation
Russian Federation
PhD, senior research fellow,
Saint Petersburg
E. N. Mikhaylov
Almazov National Medical Research Centre
Evgeniy N. Mikhaylov, PhD, MD, head of the laboratory of neuromodulation,
Saint Petersburg
B. S. Zhorov
Almazov National Medical Research Centre;
Sechenov Institute of Evolutionary Physiology and Biochemistry of the Russian Academy of Sciences
senior scientist;
Dr.Sc., prof., principal scientist,
Saint Petersburg
A. A. Kostareva
Almazov National Medical Research Centre
PhD, MD, head of the Institute of Molecular Biology and Genetics,
Saint Petersburg
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Review
For citations:
Zaytseva A.K., Karpushev A.V., Mikhaylov E.N., Zhorov B.S., Kostareva A.A. MOLECULAR MECHANISMS OF BRUGADA SYNDOME SUBTYPE 1. Translational Medicine. 2017;4(4):23-35. (In Russ.) https://doi.org/10.18705/2311-4495-2017-4-4-23-35
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