SCN5A mutation G615E results in Na_V1.5 voltage-gated sodium channels with normal voltage-dependent function yet loss of mechanosensitivity.

ABSTRACT: SCN5A is expressed in cardiomyocytes and gastrointestinal (GI) smooth muscle cells (SMCs) as the voltage-gated mechanosensitive sodium channel Na_V1.5. The influx of Na⁺ through Na_V1.5 produces a fast depolarization in membrane potential, indispensable for electrical excitability in cardiomyocytes and important for electrical slow waves in GI smooth muscle. As such, abnormal Na_V1.5 voltage gating or mechanosensitivity may result in channelopathies. SCN5A mutation G615E - found separately in cases of acquired long-QT syndrome, sudden cardiac death, and irritable bowel syndrome - has a relatively minor effect on Na_V1.5 voltage gating. The aim of this study was to test whether G615E impacts mechanosensitivity. Mechanosensitiv

SUBMITTER: Strege PR 

PROVIDER: S-EPMC6629189 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature