Promoter analysis of SCN3 A gene and alteration of the promoter activity by sodium channel beta 1 subunit:implications for human channelopathies

摘要

@@Voltage-gated sodium channel a subunit type III (Nav1.3) is mainly expressed in the central nervous system and contributes to the initiation and propagation of action potentials in neurons. SCN3A, encoding Nav 1.3, is highly expressed in embryonic rodent brains and is almost disappeared in adult age. However, SCN3A is still widely expressed in human adult brain, although with a significantly decreased expression comparing to embryonic brain. Upregulation of SCN3A has been found in halpoinsufficiency of SCN1A and other neurological conditions, such as VGSC beta 1 knockout mice with epilepsy syndrome, epileptic and peripheral nerve injury patients, suggesting a possible pathophysiological significance. Therefore, it is very significant to investigate the transcriptional regulatory mechanism of SCN3A gene.