Kalıtımsal Voltaj Kapılı Sodyum Kanalopatileri

Abstract

Voltage-gated sodium channels (VGSC), one of the members of ion channel family which can open or close due to the changes in membrane potentials, provide influx of Na+ selectively and this way, they are responsible for initiation and propagation of action potential which is a key element of cellular information in excitable cells. The channel plays an important role in physiological activities such as neuronal stimulation, muscle contraction and neurotransmitter release because of its physiological features. Therefore, inherited mutations in functional locations of VGSC protein such as voltage dependent gating and filter structures, change the biophysical properties of the channel and may cause diseases at where the channel protein isoforms located such as central nervous system, peripheral nervous system, skeletal muscle system and cardiovascular system. In this review, mutations in VGSC protein isoforms and related diseases are defined. Moreover, effects of that changes to the channel function are evaluated biophysically in detail. It is notably valuable to define mutations which are risk factors for diseases, and also mechanistically changes caused by those mutant variants in VGSC, in order to develop target-specific treatment and new methods.