期刊
CHANNELS
卷 12, 期 1, 页码 201-218出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/19336950.2018.1499368
关键词
Cardiac arrhythmia; L-type calcium channel; mutation
资金
- Natural Science Foundation of China [31371157, 81300193, 81570332]
- Natural Science Foundation of Jiangsu Province [BK20171482]
- Natural Science Foundation for Young Scholars of Jiangsu Province [BK20130887]
- Natural Science Foundation of the Higher Education Institutions of Jiangsu Province [13KJB310002]
- Science and Technology Developmental Foundation of Nanjing Medical University [2012NJMU017]
- Jiangsu Province's Key Provincial Talent Program [ZDRCA2016019]
- Start-up Foundation of Nanjing Medical University
- Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD)
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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