Ion channelopathies associated genetic variants as the culprit for sudden unexplained death

Abstract

Forensic identification of sudden unexplained death (SUD) has always been a ticklish issue because it used to be defined as sudden death without a conclusive diagnosis after autopsy. However, benefiting from the developments in genome research, a growing body of evidence points to the importance of ion channelopathies associated genetic variants in the pathogenesis of SUD. Genetic diagnosis of the deceased is also a new trend in epidemiological studies, for it enables the undertaking for preventive approach in individuals with high risks. In this review, we briefly discuss the molecular structure of ion channels and the role of genetic variants in regulating their functions as well as the diverse mechanisms underlying the ion channelopathies at gene level.

Keywords: Cardio-cerebral channelopathies; Genetic diagnosis; Polymorphism; Rare mutation; Sudden unexplained death.