The Impacts of Long QT Syndrome Type 3-associated Mutations on the Biophysical Alterations of the Cardiac Voltage-Gated Sodium Channel

2023-10-18T11:07:11+07:00

The cardiac sodium channel is a protein responsible for generating the sodium current and initiating the rapid upstroke of the cardiac action potential. Mutations in this channel can lead to various cardiac diseases, with one notable condition being the long QT syndrome type 3. Patients with this syndrome typically experience arrhythmia during rest or sleep, which may go unnoticed. Currently, more than 90 mutations associated with long QT syndrome have been identified, with approximately 50 mutations under investigation for their electrophysiological properties. These investigations have revealed abnormal sodium currents properties, including sustained sodium current, increased peak sodium current, window current, faster recovery from inactivation, and slower current decay. This review article aims to provide an overview of the current understanding regarding the effects of mutations documented in research that spanned from 1996 to 2023, along with the methodologies used to measure their electrophysiological properties. Studying these mutations helps to elucidate the mechanisms that contribute to long QT syndrome type 3, enhance diagnostic accuracy, and provide a basis for improved targeted treatment strategies.

Journal of Physiological and Biomedical Sciences

The Impacts of Long QT Syndrome Type 3-associated Mutations on the Biophysical Alterations of the Cardiac Voltage-Gated Sodium Channel