Effects of SCN5A mutation on intracellular calcium concentration

Abstract

Abstract:Objective: To construct the delQKP1507-1509 mutant of SCN5A channel, and observe the effects of this mutation on intracellular calcium concentration. Methods: SCN5A delQKP1507-1509 mutation was engineered using site-directed mutagenesis. Wild-type (WT), mutant (MT) and mixed (the mixture of wild-type and mutant plasmids at a ratio of 1:1) Nav1.5 plasmids were transfected into human embryonic kidney 293 (HEK293) mimicking the heterozygous state were 79.3683±3.051, 94.6165±8.383, 90.7463±6.421 respectively, and there was no significant difference among these three groups (P>0.05). Conclusions: SCN5A delQKP1507-1509 mutant is successfully constructed and transfected into HEK293 cells. The mutation does not affect calcium concentration and further study is required to describe the possible pathophysiological mechanisms of dilated cardiomyopathy phenotype in sodium channel overlap syndromes caused by this SCN5A delQKP1507-1509 mutation.