Characterization of the novel heterozygous genetic variant Y739D associated with Brugada syndrome.

Genetic variants in gene were identified in patients with various arrhythmogenic conditions including Brugada syndrome. Despite significant progress of last decades in studying the molecular mechanism of arrhythmia-associated mutations, the understanding of relationship between genetics, electrophysiological consequences and clinical phenotype is lacking. We have found a novel genetic variant Y739D in the encoded sodium channel Na1.

Time- and Ventricular-Specific Expression Profiles of Genes Encoding Z-Disk Proteins in Pressure Overload Model of Left Ventricular Hypertrophy.

Mechanotransduction is an essential mechanism of transforming external mechanical stimulus to biochemical response. In cardiomyocytes mechanotransduction plays an important role in contraction, stretch sensing and homeostasis regulation. One of the major mechanosensitive area in cardiomyocytes, the Z-disk, consists of numbers of structural and signaling proteins, that may undergo conformational or gene expression changes under pathological stress conditions.