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CACNA1C

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https://www.readbyqxmd.com/read/28616568/clinical-evaluation-of-r860q-semi-conservative-amino-acid-substitution-in-cacna1c-gene-in-association-with-long-qt-syndrome
#1
Usama Boles, Chris Simpson, Enes E Gul, Cortney Kiss, Andres Enriquez, Zongchao Jia, Adrián Baranchuk, Jagdeep S Walia
No abstract text is available yet for this article.
June 2017: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28607492/cognitive-characterization-of-schizophrenia-risk-variants-involved-in-synaptic-transmission-evidence-of-cacna1c-s-role-in-working-memory
#2
Donna Cosgrove, Omar Mothersill, Kimberley Kendall, Bettina Konte, Denise Harold, Ina Giegling, Annette Hartmann, Alex Richards, Kiran Mantripragada, Michael J Owen, Michael C O'Donovan, Michael Gill, Dan Rujescu, James Walters, Aiden Corvin, Derek W Morris, Gary Donohoe
With >100 common variants associated with schizophrenia risk, establishing their biological significance is a priority. We sought to establish cognitive effects of risk variants at loci implicated in synaptic transmission by (1) identifying GWAS schizophrenia variants whose associated gene function is related to synaptic transmission, and (2) testing for association between these and measures of neurocognitive function. We selected variants, reported in the largest GWAS to date, associated with genes involved in synaptic transmission...
June 13, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28604818/cacna1c-gene-regulates-behavioral-strategies-in-operant-rule-learning
#3
Georgia Koppe, Anne Stephanie Mallien, Stefan Berger, Dusan Bartsch, Peter Gass, Barbara Vollmayr, Daniel Durstewitz
Behavioral experiments are usually designed to tap into a specific cognitive function, but animals may solve a given task through a variety of different and individual behavioral strategies, some of them not foreseen by the experimenter. Animal learning may therefore be seen more as the process of selecting among, and adapting, potential behavioral policies, rather than mere strengthening of associative links. Calcium influx through high-voltage-gated Ca2+ channels is central to synaptic plasticity, and altered expression of Cav1...
June 2017: PLoS Biology
https://www.readbyqxmd.com/read/28593527/role-of-cacna1c-gene-polymorphisms-and-protein-expressions-in-the-pathogenesis-of-schizophrenia-a-case-control-study-in-a-chinese-population
#4
Sheng-Yu Zhang, Qiang Hu, Tao Tang, Chao Liu, Cheng-Chong Li, Xiao-Guang Yang, Yin-Yin Zang, Wei-Xiong Cai
The study aimed to investigate the correlations of CACNA1C genetic polymorphisms and protein expression with the pathogenesis of schizophrenia in a Chinese population. This research included 139 patients diagnosed with schizophrenia (case group) and 141 healthy volunteers (control group). Case and control samples were genotyped using denaturing high-performance liquid chromatography (DHPLC). Haplotypes of rs10848683, rs2238032, and rs2299661 were analyzed using the Shesis software. A mouse model of schizophrenia was established and assigned to test and blank groups...
June 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28584287/rescue-of-impaired-sociability-and-anxiety-like-behavior-in-adult-cacna1c-deficient-mice-by-pharmacologically-targeting-eif2%C3%AE
#5
Z D Kabir, A Che, D K Fischer, R C Rice, B K Rizzo, M Byrne, M J Glass, N V De Marco Garcia, A M Rajadhyaksha
CACNA1C, encoding the Cav1.2 subunit of L-type Ca(2+) channels, has emerged as one of the most prominent and highly replicable susceptibility genes for several neuropsychiatric disorders. Cav1.2 channels play a crucial role in calcium-mediated processes involved in brain development and neuronal function. Within the CACNA1C gene, disease-associated single-nucleotide polymorphisms have been associated with impaired social and cognitive processing and altered prefrontal cortical (PFC) structure and activity. These findings suggest that aberrant Cav1...
June 6, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28569435/the-new-kids-on-the-block-of-arrhythmogenic-disorders-short-qt-syndrome-and-early-repolarization
#6
REVIEW
Andrea Mazzanti, Katherine Underwood, Dmitriy Nevelev, Shanna Kofman, Silvia G Priori
Short QT Syndrome (SQTS) is a one of the rarest inheritable cardiac channelopathy, characterized by an accelerated cardiac repolarization, which is also the substrate for the development of life-threatening ventricular arrhythmias. Up to this date, fewer than 200 SQTS cases have been reported in the literature worldwide. Patients with SQTS may experience a cardiac arrest as early as in the neonatal period or as late as 80 years old. The cumulative probability of experiencing a cardiac arrest by the fifth decade of life approaches 40%, highlighting the importance of early recognition and management...
June 1, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28546098/altered-long-non-coding-rna-expression-profile-in-rabbit-atria-with-atrial-fibrillation-tcons_00075467-modulates-atrial-electrical-remodeling-by-sponging-mir-328-to-regulate-cacna1c
#7
Zhan Li, Ximin Wang, Weizong Wang, Juanjuan Du, Jinqiu Wei, Yong Zhang, Jiangrong Wang, Yinglong Hou
Electrical remodeling has been reported to play a major role in the initiation and maintenance of atrial fibrillation (AF). Long non-coding RNAs (lncRNAs) have been increasingly recognized as contributors to the pathology of heart diseases. However, the roles and mechanisms of lncRNAs in electrical remodeling during AF remain unknown. In this study, the lncRNA expression profiles of right atria were investigated in AF and non-AF rabbit models by using RNA sequencing technique and validated using quantitative real-time polymerase chain reaction (qRT-PCR)...
May 22, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28525603/genome-wide-association-study-of-psychosis-proneness-in-the-finnish-population
#8
Alfredo Ortega-Alonso, Jesper Ekelund, Antti-Pekka Sarin, Jouko Miettunen, Juha Veijola, Marjo-Riitta Järvelin, William Hennah
The current study examined quantitative measures of psychosis proneness in a nonpsychotic population, in order to elucidate their underlying genetic architecture and to observe if there is any commonality to that already detected in the studies of individuals with overt psychotic conditions, such as schizophrenia and bipolar disorder. Heritability, univariate and multivariate genome-wide association (GWAs) tests, including a series of comprehensive gene-based association analyses, were developed in 4269 nonpsychotic persons participating in the Northern Finland Birth Cohort 1966 study with information on the following psychometric measures: Hypomanic Personality, Perceptual Aberration, Physical and Social Anhedonia (also known as Chapman's Schizotypia scales), and Schizoidia scale...
May 19, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28521147/a-pilot-study-of-differential-brain-activation-to-suicidal-means-and-dna-methylation-of-cacna1c-gene-in-suicidal-attempt-patients
#9
Young Jong Kim, Hae Jeong Park, Geon-Ho Jahng, Sang Min Lee, Won Sub Kang, Su Kang Kim, Tae Kim, Ah Rang Cho, Jin Kyung Park
Suicide is a serious public health problem. In this study, we investigated functional brain changes to novel visual stimuli of suicidal means, DNA methylation status, and the relationship between the two markers. 14 suicidal attempt patients (SAs) and 22 healthy controls were included. Pictures of facial expressions and suicidal means were shown to subjects during fMRI scanning. 11 CpG sites within transcription factor binding site of CACNA1C gene were selected. In knives (K) vs. natural landscape (NL) condition, left middle frontal gyrus (Brodmann's area, BA 6 and 46) and left inferior frontal gyrus (BA 9) were shown to be significantly higher brain activation in the SAs than the controls (p<0...
May 13, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28497380/from-gene-to-behavior-l-type-calcium-channel-mechanisms-underlying-neuropsychiatric-symptoms
#10
REVIEW
Zeeba D Kabir, Arlene Martínez-Rivera, Anjali M Rajadhyaksha
The L-type calcium channels (LTCCs) Cav1.2 and Cav1.3, encoded by the CACNA1C and CACNA1D genes, respectively, are important regulators of calcium influx into cells and are critical for normal brain development and plasticity. In humans, CACNA1C has emerged as one of the most widely reproduced and prominent candidate risk genes for a range of neuropsychiatric disorders, including bipolar disorder (BD), schizophrenia (SCZ), major depressive disorder, autism spectrum disorder, and attention deficit hyperactivity disorder...
May 11, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28494468/genes-involved-in-neurodevelopment-neuroplasticity-and-bipolar-disorder-cacna1c-chrna1-and-mapk1
#11
Marco Calabrò, Laura Mandelli, Concetta Crisafulli, Antonella Sidoti, Tae-Youn Jun, Soo-Jung Lee, Changsu Han, Ashwin A Patkar, Prakash S Masand, Chi-Un Pae, Alessandro Serretti
BACKGROUND: Bipolar disorder (BPD) is a common and severe mental disorder. The involvement of genetic factors in the pathophysiology of BPD is well known. In the present study, we tested the association of several single-nucleotide polymorphisms (SNPs) within 3 strong candidate genes (CACNA1C, CHRNA7, and MAPK1) with BPD. These genes are involved in monoamine-related pathways, as well as in dendrite development, neuronal survival, synaptic plasticity, and memory/learning. METHODS: One hundred and thirty-two subjects diagnosed with BPD and 326 healthy controls of Korean ancestry were genotyped for 40 SNPs within CACNA1C, CHRNA17, and MAPK1...
2016: Neuropsychobiology
https://www.readbyqxmd.com/read/28493952/a-mutation-in-the-cacna1c-gene-leads-to-early-repolarization-syndrome-with-incomplete-penetrance-a-chinese-family-study
#12
Xin Liu, Yang Shen, Jinyan Xie, Huihui Bao, Qing Cao, Rong Wan, Xiaoming Xu, Hui Zhou, Lin Huang, Zhenyan Xu, Wengen Zhu, Jinzhu Hu, Xiaoshu Cheng, Kui Hong
BACKGROUND: Early repolarization syndrome (ERS) may be a near-Mendelian or an oligogenic disease; however, no direct evidence has been provided to support this theory. METHODS AND RESULTS: We described a large Chinese family with nocturnal sudden cardiac death induced by ERS in most of the young male adults. One missense mutation (p.Q1916R) was found in the major subunit of the L-type calcium channel gene CACNA1C by the direct sequencing of candidate genes. A concomitant gain-of-function variant in the sodium channel gene SCN5A (p...
2017: PloS One
https://www.readbyqxmd.com/read/28490369/erratum-to-%C3%A2-novel-trigenic-cacna1c-des-mypn-mutations-in-a-family-of-hypertrophic-cardiomyopathy-with-early-repolarization-and-short-qt-syndrome
#13
Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu
No abstract text is available yet for this article.
May 11, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28439241/nifedipine-inhibition-of-high-voltage-activated-calcium-channel-currents-in-cerebral-artery-myocytes-is-influenced-by-extracellular-divalent-cations
#14
Fei Wang, Masayo Koide, George C Wellman
Voltage-dependent calcium channels (VDCCs) play an essential role in regulating cerebral artery diameter and it is widely appreciated that the L-type VDCC, CaV1.2, encoded by the CACNA1C gene, is a principal Ca(2+) entry pathway in vascular myocytes. However, electrophysiological studies using 10 mM extracellular barium ([Ba(2+)]o) as a charge carrier have shown that ~20% of VDCC currents in cerebral artery myocytes are insensitive to 1,4-dihydropyridine (1,4-DHP) L-type VDDC inhibitors such as nifedipine. Here, we investigated the hypothesis that the concentration of extracellular divalent cations can influence nifedipine inhibition of VDCC currents...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28427417/novel-trigenic-cacna1c-des-mypn-mutations-in-a-family-of-hypertrophic-cardiomyopathy-with-early-repolarization-and-short-qt-syndrome
#15
Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu
BACKGROUND: Hypertrophic cardiomyopathy (HCM) patients with early repolarization (ER) pattern are at higher risk of ventricular arrhythmia, yet the genetic background of this situation has not been well investigated. Here we report novel trigenic mutations detected in a Chinese family of obstructive HCM with ER and short QT syndrome (SQTS). METHODS: Proband and family members underwent detailed medical assessments. DNAs were extracted from peripheral blood leukocytes for genetic screening with next generation method...
April 20, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28401855/brugada-syndrome-and-calcium-channel-mutation-in-a-patient-with-congenital-deaf-mutism
#16
Uğur Canpolat, Cem Coteli, Kudret Aytemir
To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS) in whom a mutation in L-type Ca(+2) channel [CACNA1C (Cav1.2α1)] was identified.
January 2017: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/28398341/the-cacna1c-risk-allele-rs1006737-is-associated-with-age-related-prefrontal-cortical-thinning-in-bipolar-i-disorder
#17
M G Soeiro-de-Souza, B Lafer, R A Moreno, F G Nery, T Chile, K Chaim, C da Costa Leite, R Machado-Vieira, M C G Otaduy, H Vallada
Calcium channels control the inflow of calcium ions into cells and are involved in diverse cellular functions. The CACNA1C gene polymorphism rs1006737 A allele has been strongly associated with increased risk for bipolar disorder (BD) and with modulation of brain morphology. The medial prefrontal cortex (mPFC) has been widely associated with mood regulation in BD, but the role of this CACNA1C polymorphism in mPFC morphology and brain aging has yet to be elucidated. One hundred seventeen euthymic BD type I subjects were genotyped for CACNA1C rs1006737 and underwent 3 T three-dimensional structural magnetic resonance imaging scans to determine cortical thickness of mPFC components (superior frontal cortex (sFC), medial orbitofrontal cortex (mOFC), caudal anterior cingulate cortex (cACC) and rostral anterior cingulate cortex (rACC))...
April 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28394258/large-scale-genome-wide-analysis-identifies-genetic-variants-associated-with-cardiac-structure-and-function
#18
Philipp S Wild, Janine F Felix, Arne Schillert, Alexander Teumer, Ming-Huei Chen, Maarten J G Leening, Uwe Völker, Vera Großmann, Jennifer A Brody, Marguerite R Irvin, Sanjiv J Shah, Setia Pramana, Wolfgang Lieb, Reinhold Schmidt, Alice V Stanton, Dörthe Malzahn, Albert Vernon Smith, Johan Sundström, Cosetta Minelli, Daniela Ruggiero, Leo-Pekka Lyytikäinen, Daniel Tiller, J Gustav Smith, Claire Monnereau, Marco R Di Tullio, Solomon K Musani, Alanna C Morrison, Tune H Pers, Michael Morley, Marcus E Kleber, Jayashri Aragam, Emelia J Benjamin, Joshua C Bis, Egbert Bisping, Ulrich Broeckel, Susan Cheng, Jaap W Deckers, Fabiola Del Greco M, Frank Edelmann, Myriam Fornage, Lude Franke, Nele Friedrich, Tamara B Harris, Edith Hofer, Albert Hofman, Jie Huang, Alun D Hughes, Mika Kähönen, Knhi Investigators, Jochen Kruppa, Karl J Lackner, Lars Lannfelt, Rafael Laskowski, Lenore J Launer, Margrét Leosdottir, Honghuang Lin, Cecilia M Lindgren, Christina Loley, Calum A MacRae, Deborah Mascalzoni, Jamil Mayet, Daniel Medenwald, Andrew P Morris, Christian Müller, Martina Müller-Nurasyid, Stefania Nappo, Peter M Nilsson, Sebastian Nuding, Teresa Nutile, Annette Peters, Arne Pfeufer, Diana Pietzner, Peter P Pramstaller, Olli T Raitakari, Kenneth M Rice, Fernando Rivadeneira, Jerome I Rotter, Saku T Ruohonen, Ralph L Sacco, Tandaw E Samdarshi, Helena Schmidt, Andrew S P Sharp, Denis C Shields, Rossella Sorice, Nona Sotoodehnia, Bruno H Stricker, Praveen Surendran, Simon Thom, Anna M Töglhofer, André G Uitterlinden, Rolf Wachter, Henry Völzke, Andreas Ziegler, Thomas Münzel, Winfried März, Thomas P Cappola, Joel N Hirschhorn, Gary F Mitchell, Nicholas L Smith, Ervin R Fox, Nicole D Dueker, Vincent W V Jaddoe, Olle Melander, Martin Russ, Terho Lehtimäki, Marina Ciullo, Andrew A Hicks, Lars Lind, Vilmundur Gudnason, Burkert Pieske, Anthony J Barron, Robert Zweiker, Heribert Schunkert, Erik Ingelsson, Kiang Liu, Donna K Arnett, Bruce M Psaty, Stefan Blankenberg, Martin G Larson, Stephan B Felix, Oscar H Franco, Tanja Zeller, Ramachandran S Vasan, Marcus Dörr
BACKGROUND: Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual variability in cardiac structure and function. METHODS: A GWAS meta-analysis of echocardiographic traits was performed, including 46,533 individuals from 30 studies (EchoGen consortium). The analysis included 16 traits of left ventricular (LV) structure, and systolic and diastolic function...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28391406/association-between-cacna1c-gene-polymorphisms-and-ritodrine-induced-adverse-events-in-preterm-labor-patients
#19
Min Young Baek, Han Sung Hwang, Jin Young Park, Jee Eun Chung, Kyung Eun Lee, Gwan Yung Lee, Jin Won Seong, Jeong Yee, Young Ju Kim, Hye Sun Gwak
PURPOSE: As a tocolytic agent, ritodrine has been used in European and Asian countries but has lost popularity due to safety concerns. This study aimed to investigate the relationship between adverse drug events caused by ritodrine and the CACNA1C polymorphisms in preterm labor patients. METHODS: Data were collected from medical records including maternal age, gestational age, body mass index, dilation score, effacement score, modified Bishop score, maximum infusion rate, and adverse drug events...
April 8, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28384108/profiling-of-circulating-serum-micrornas-in-children-with-autism-spectrum-disorder-using-stem-loop-qrt-pcr-assay
#20
Tatyana M Kichukova, Nikolay T Popov, Ivan S Ivanov, Tihomir I Vachev
BACKGROUND: Development of biomarkers for autism spectrum disorder (ASD) has still remained a challenge to date. Recently, alterations of the expression of microRNAs (miRNAs) in peripheral blood, serum and post-mortem brain tissue have been linked to ASD. miRNAs are known to be secreted by various cell types and can mediate transmission of information into recipient cells and to modulate their physiological functions. On this basis it is assumed that circulating miRNAs could be useful biomarkers for the diagnosis or prognosis of pathological conditions...
March 1, 2017: Folia Medica
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