Mechanisms underlying age-associated manifestation of cardiac sodium channel gain-of-function.

ABSTRACT: Cardiac action potentials are initiated by sodium ion (Na⁺) influx through voltage-gated Na⁺ channels. Na⁺ channel gain-of-function (GOF) can arise in inherited conditions due to mutations in the gene encoding the cardiac Na⁺ channel, such as Long QT syndrome type 3 (LQT3). LQT3 can be a "concealed" disease, as patients with LQT3-associated mutations can remain asymptomatic until later in life; however, arrhythmias can also arise early in life in LQT3 patients, demonstrating a complex age-associated manifestation. We and others recently demonstrated that cardiac Na⁺ channels preferentially localize at the intercalated disc (ID) in adult cardiac tissue, which facilitates ephaptic coupling and formation of intercellular Na⁺ na

SUBMITTER: Nowak MB 

PROVIDER: S-EPMC8026540 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature