Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia

Channels
Qing ZhangLei Zhou

Abstract

The voltage-gated L-type calcium channel (LTCC) is essential for multiple cellular processes. In the heart, calcium influx through LTCC plays an important role in cardiac electrical excitation. Mutations in LTCC genes, including CACNA1C, CACNA1D, CACNB2 and CACNA2D, will induce the dysfunctions of calcium channels, which result in the abnormal excitations of cardiomyocytes, and finally lead to cardiac arrhythmias. Nevertheless, the newly found mutations in LTCC and their functions are continuously being elucidated. This review summarizes recent findings on the mutations of LTCC, which are associated with long QT syndromes, Timothy syndromes, Brugada syndromes, short QT syndromes, and some other cardiac arrhythmias. Indeed, we describe the gain/loss-of-functions of these mutations in LTCC, which can give an explanation for the phenotypes of cardiac arrhythmias. Moreover, we present several challenges in the field at present, and propose some diagnostic or therapeutic approaches to these mutation-associated cardiac diseases in the future.

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Citations

Aug 25, 2019·Methods and Protocols·Catherine E StanleyRobin L Cooper
Mar 3, 2020·Frontiers in Cardiovascular Medicine·Ahmed A Y RagabNatasja M S de Groot
Feb 23, 2020·American Journal of Physiology. Heart and Circulatory Physiology·Jeong Min NamJi-One Kang
May 24, 2019·Frontiers in Cardiovascular Medicine·Yongxia Sarah QuMohamed Boutjdir
Apr 15, 2021·Circulation Research·Pietro MesircaAlicia D'Souza
Jun 25, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lance H RodanVandana Shashi
Nov 20, 2021·American Journal of Physiology. Heart and Circulatory Physiology·Marie-Louise BangJu Chen

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Methods Mentioned

BETA
Exome Sequencing

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