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Genetically Determined Ventricular Arrhythmias
Published in Andrea Natale, Oussama M. Wazni, Kalyanam Shivkumar, Francis E. Marchlinski, Handbook of Cardiac Electrophysiology, 2020
Houman Khakpour, Jason S. Bradfield
To date, gain of function mutations in 3 potassium channel genes have been associated with SQTS (KCNH2, KCNQ1, KCNJ2).43,44 Mutations in the CACNA1C and CACNB2 genes, which encode the alpha- and beta-subunits of the L-type cardiac calcium channels have been described as well.2 These mutations result in an abnormally rapid repolarization.
Improved Management of Autism Spectrum Disorder (ASD) by Micronutrients
Published in Kedar N. Prasad, Micronutrients in Health and Disease, 2019
In the serum of ASD patients, the expression of miR-151a-3p, miR-181b-5p, miR-320a, miR-328, miR-433, miR-489, miR-572, and miR-663a was downregulated, whereas the expression of miR-101-3p, miR-106b-5p, miR-130a-3p, miR-195-5p, and miR-19b-3p was upregulated.39 Another study reported that 11 miRs were overexpressed and 29 miRs were downregulated in the serum of ASD patients. The target genes for these microRNAs were alpha 1C subunit of voltage-dependent calcium channel, L type (CACNA1C), beta 1C subunit of voltage-dependent calcium channel, L type (CACNAB1), and other genes like cytoplasmic ribonuclease type III (Dicer).40 It was suggested that serum levels of miR-424-5p, miR-197-5p, miR-328-3p, miR-500a-5p, miR-619-5p, miR-3135a, miR-664a-3p, and miR-365a-3p might be useful as potential biomarkers for ASD in children.
Applications of imaging genomics beyond oncology
Published in Ruijiang Li, Lei Xing, Sandy Napel, Daniel L. Rubin, Radiomics and Radiogenomics, 2019
Xiaohui Yao, Jingwen Yan, Li Shen
Bipolar disorder: Several genome-wide analyses have been performed to explore the genetic architecture of bipolar disorder (BPD) and identified several disease risk genes like ANK3, CACNA1C, ODZ4, and several others, which, however, use only disease statuses as phenotypes. Imaging genomics have also been applied in bipolar disorder, exploring the associations between BPD candidate SNPs/genes and brain regions. Shown in Table 20.5 are the genetic findings of bipolar disorder, where CACNA1C is the one that has been mostly explored and confirmed in imaging genomic studies. Several SNPs of CACNA1C show significant associations with different brain regions, including prefrontal cortex, hippocampus, caudate, amygdala, and some others. Besides, there are also a few genes reported or confirmed from the imaging genomics studies relevant to bipolar disorder, schizophrenia, as well as depression. It may promote the understanding of the underlying common mechanisms among the complex psychiatric disorders.
Impact of ZNF804A rs1344706 or CACNA1C rs1006737 polymorphisms on cognition in patients with severe mental disorders: A systematic review and meta-analysis
Published in The World Journal of Biological Psychiatry, 2023
Ana Cecília Novaes de Oliveira Roldan, Luiz Carlos Cantanhede Fernandes Júnior, Carlos Eduardo Coral de Oliveira, Sandra Odebrecht Vargas Nunes
Schizophrenia (SCZ) spectrum and bipolar disorder (BD) are severe mental disorders associated with cognitive impairment indicating polygenic overlap (Smeland et al. 2020), even though the cognitive deficits are more severe in SCZ than BD (Bora and Pantelis 2015). Several candidate genes have been described as possibly associated with BD and SCZ spectrum, as the gene that encodes the Calcium Voltage-Gated Channel Subunit Alpha1 C (CACNA1C) and the gene that codes for the Zinc Finger Protein 804 A (ZNF804A) (Williams et al. 2011; Kuswanto et al. 2012; Castano et al. 2019). In previous studies, CACNA1C polymorphisms have been frequently associated with alterations in cognitive functions in psychiatric disorders by dysregulated Ca2+-mediated molecular and transcriptional gene networks (Arts et al. 2013; Kabir et al. 2017; Lin et al. 2017).
Allicin disrupts cardiac Cav1.2 channels via trafficking
Published in Pharmaceutical Biology, 2019
Dan Han, Lingping Xu, Peng Liu, Yingying Liu, Chaofeng Sun, Yanrong Yin
The l-type calcium (Cav1.2) channel is encoded by the CACNA1C gene; it provides a pivotal substrate for cardiac electrophysiologic activities. The Cav1.2 channel conducts L-type calcium current (ICaL) that takes part in excitation–contraction (EC) coupling, controlling action potential duration (APD) and regulation of gene expression of cardiac cells, thereby playing an important role in cardiac function (Antzelevitch et al. 2007; Sicouri et al. 2007; Zhao et al. 2012; Navedo & Santana 2013). Mutations in CACNA1C or drug interactions with Cav1.2 channel protein might lead to gain or loss of functions of Cav1.2 channel, giving rise to alterations of ICaL and consequently triggering malignant arrhythmias (Gao et al. 2013; Koenig et al. 2013). With this unique attribute, the Cav1.2 channel may be a primary target for the pharmacological management of arrhythmias.
Association study of CACNA1C polymorphisms with large artery atherosclerotic stroke in Chinese Han population
Published in Neurological Research, 2018
Chen Peng, Ying Ding, Xin Yi, Zhiqiang Dong, Limei Cao, Qiang Li, Haiyan Ren, Lin He, Daizhan Zhou, Xu Chen
CACNA1C gene encodes an alpha-1 subunit of a voltage-dependent calcium channel, which mediates the entry of calcium ions into excitable cells. Voltage-dependent calcium channels are involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression [10]. So far, CACNA1C related research mainly focused on bipolar disorder, schizophrenia, atrial fibrillation, and other diseases [15–18]. The latest studies have shown that CACNA1C polymorphisms are associated with hypertension, and CACNA1C maybe an important factor in the treatment of hypertension with calcium channel blockers [19–21]. In a recent study, the CACNA1C gene has been proved to be correlated with atherosclerosis. These studies show that CACNA1C in cardiovascular and cerebrovascular aspects of certain research prospects.