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CACNA1C

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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
#1
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
#2
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
#3
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
#4
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
#5
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...
April 10, 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
#6
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
#7
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
https://www.readbyqxmd.com/read/28371864/a-multicentre-study-of-patients-with-timothy-syndrome
#8
Mark A Walsh, Christian Turner, Katherine W Timothy, Neil Seller, Dominic L Hares, Andrew F James, Jules C Hancox, Orhan Uzun, Dean Boyce, Alan G Stuart, Paul Brennan, Caroline Sarton, Karen McGuire, Ruth A Newbury-Ecob, Karen Mcleod
Aims: Timothy syndrome (TS) is an extremely rare multisystem disorder characterized by marked QT prolongation, syndactyly, seizures, behavioural abnormalities, immunodeficiency, and hypoglycaemia. The aim of this study was to categorize the phenotypes and examine the outcomes of patients with TS. Methods and results: All patients diagnosed with TS in the United Kingdom over a 24-year period were reviewed. Fifteen centres in the British Congenital Arrhythmia Group network were contacted to partake in the study...
March 24, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28315637/trpm4-non-selective-cation-channel-variants-in-long-qt-syndrome
#9
Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet
BACKGROUND: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not all LQTS patients have an identified mutation, which suggests LQTS unknown genes. METHODS: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin 4 gene (TRPM4)...
March 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28289693/cav1-2-channels-mediate-persistent-chronic-stress-induced-behavioral-deficits-that-are-associated-with-prefrontal-cortex-activation-of-the-p25-cdk5-glucocorticoid-receptor-pathway
#10
Charlotte C Bavley, Delaney K Fischer, Bryant K Rizzo, Anjali M Rajadhyaksha
Chronic stress is known to precipitate and exacerbate neuropsychiatric symptoms, and exposure to stress is particularly pathological in individuals with certain genetic predispositions. Recent genome wide association studies have identified single nucleotide polymorphisms (SNPs) in the gene CACNA1C, which codes for the Cav1.2 subunit of the L-type calcium channel (LTCC), as a common risk variant for multiple neuropsychiatric conditions. Cav1.2 channels mediate experience-dependent changes in gene expression and long-term synaptic plasticity through activation of downstream calcium signaling pathways...
December 2017: Neurobiology of Stress
https://www.readbyqxmd.com/read/28239561/regulation-of-cardiac-cacnb2-by-microrna-499-potential-role-in-atrial-fibrillation
#11
Tian-You Ling, Xiao-Li Wang, Qiang Chai, Tong Lu, John M Stulak, Lyle D Joyce, Richard C Daly, Kevin L Greason, Li-Qun Wu, Win-Kuang Shen, Yong-Mei Cha, Hon-Chi Lee
The L-type calcium channel (LTCC) is one of the major ion channels that are known to be associated with the electrical remodeling of atrial fibrillation (AF). In AF, there is significant downregulation of the LTCC, but the underlying mechanism for such downregulation is not clear. We have previously reported that microRNA-499 (miR-499) is significantly upregulated in patients with permanent AF and that KCNN3, the gene that encodes the small-conductance calcium-activated potassium channel 3 (SK3), is a target of miR-499...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28230278/deletion-of-psychiatric-risk-gene-cacna1c-impairs-hippocampal-neurogenesis-in-cell-autonomous-fashion
#12
Bianca Völkening, Kai Schönig, Golo Kronenberg, Dusan Bartsch, Tillmann Weber
Ca(2+) is a universal signal transducer which fulfills essential functions in cell development and differentiation. CACNA1C, the gene encoding the alpha-1C subunit (i.e., Cav 1.2) of the voltage-dependent l-type calcium channel (LTCC), has been implicated as a risk gene in a variety of neuropsychiatric disorders. To parse the role of Cav 1.2 channels located on astrocyte-like stem cells and their descendants in the development of new granule neurons, we created Tg(GLAST-CreERT2) /Cacna1c(fl/fl) /RCE:loxP mice, a transgenic tool that allows cell-type-specific inducible deletion of Cacna1c...
February 23, 2017: Glia
https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#13
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28199072/genetic-risk-score-analysis-in-early-onset-bipolar-disorder
#14
Paul E Croarkin, Joan L Luby, Kelly Cercy, Jennifer R Geske, Marin Veldic, Matthew Simonson, Paramjit T Joshi, Karen Dineen Wagner, John T Walkup, Malik M Nassan, Alfredo B Cuellar-Barboza, Leah Casuto, Susan L McElroy, Peter S Jensen, Mark A Frye, Joanna M Biernacka
OBJECTIVE: In this study, we performed a candidate genetic risk score (GRS) analysis of early-onset bipolar disorder (BD). METHODS: Treatment of Early Age Mania (TEAM) study enrollment and sample collection took place from 2003 to 2008. Mayo Clinic Bipolar Biobank samples were collected from 2009 to 2013. Genotyping and analyses for the present study took place from 2013 to 2014. The diagnosis of BD was based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision criteria...
February 14, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28186690/reduced-levels-of-cacna1c-attenuate-mesolimbic-dopamine-system-function
#15
C E Terrillion, D T Dao, R Cachope, M K Lobo, A C Puche, J F Cheer, T D Gould
Genetic variation in CACNA1C, which codes for the L-type calcium channel (LTCC) Cav 1.2, is associated with clinical diagnoses of bipolar disorder, depression and schizophrenia. Dysregulation of the mesolimbic-dopamine (ML-DA) system is linked to these syndromes and LTCCs are required for normal DAergic neurotransmission between the ventral tegmental area (VTA) and nucleus accumbens (NAc). It is unclear, however, how variations in CACNA1C genotype, and potential subsequent changes in expression levels in these regions, modify risk...
February 10, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28165117/decreased-nucleus-accumbens-expression-of-psychiatric-disorder-risk-gene-cacna1c-promotes-susceptibility-to-social-stress
#16
Chantelle E Terrillion, T Chase Francis, Adam C Puche, Mary Kay Lobo, Todd D Gould
No abstract text is available yet for this article.
February 6, 2017: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28152551/serum-response-factor-regulates-smooth-muscle-contractility-via-myotonic-dystrophy-protein-kinases-and-l-type-calcium-channels
#17
Moon Young Lee, Chanjae Park, Se Eun Ha, Paul J Park, Robyn M Berent, Brian G Jorgensen, Robert D Corrigan, Nathan Grainger, Peter J Blair, Orazio J Slivano, Joseph M Miano, Sean M Ward, Terence K Smith, Kenton M Sanders, Seungil Ro
Serum response factor (SRF) transcriptionally regulates expression of contractile genes in smooth muscle cells (SMC). Lack or decrease of SRF is directly linked to a phenotypic change of SMC, leading to hypomotility of smooth muscle in the gastrointestinal (GI) tract. However, the molecular mechanism behind SRF-induced hypomotility in GI smooth muscle is largely unknown. We describe here how SRF plays a functional role in the regulation of the SMC contractility via myotonic dystrophy protein kinase (DMPK) and L-type calcium channel CACNA1C...
2017: PloS One
https://www.readbyqxmd.com/read/28115213/two-novel-candidate-genes-identified-in-adults-from-the-newfoundland-population-with-addictive-tendencies-towards-food
#18
Pardis Pedram, Guangju Zhai, Wayne Gulliver, Hongwei Zhang, Guang Sun
Food addiction (FA) is a distinguished clinical feature affecting about 5% adults of the general population in Canada. FA contributes to obesity, however, the underlying genes in FA are largely unknown. The aim of the current study was to search for FA candidate genes using an exome sequencing followed by a verification study using the most significantly associated identified genes. From a total of 752 adults, 24 subjects were selected including 8 obese with high and 8 obese with low/zero FA clinical symptom score (FAO, NFO), and 8 healthy controls with normal BMI and low/zero FA symptom score (Ctrl)...
January 20, 2017: Appetite
https://www.readbyqxmd.com/read/28054347/ano1-in-intramuscular-interstitial-cells-of-cajal-plays-a-key-role-in-the-generation-of-slow-waves-and-tone-in-the-internal-anal-sphincter
#19
C A Cobine, E E Hannah, M H Zhu, H E Lyle, J R Rock, K M Sanders, S M Ward, K D Keef
KEY POINTS: The internal anal sphincter develops tone important for maintaining high anal pressure and continence. Controversy exists regarding the mechanisms underlying tone development. We examined the hypothesis that tone depends upon electrical slow waves (SWs) initiated in intramuscular interstitial cells of Cajal (ICC-IM) by activation of Ca(2+) -activated Cl(-) channels (ANO1, encoded by Ano1) and voltage-dependent L-type Ca(2+) channels (CavL , encoded by Cacna1c). Measurement of membrane potential and contraction indicated that ANO1 and CavL have a central role in SW generation, phasic contractions and tone, independent of stretch...
March 15, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28031415/evaluation-of-batch-variations-in-induced-pluripotent-stem-cell-derived-human-cardiomyocytes-from-2-major-suppliers
#20
Jianhua Huo, Archana Kamalakar, Xi Yang, Beverly Word, Norman Stockbridge, Beverly Lyn-Cook, Li Pang
Drug-induced proarrhythmia is a major safety issue in drug development. Developing sensitive in vitro assays that can predict drug-induced cardiotoxicity in humans has been a challenge of toxicology research for decades. Recently, induced pluripotent stem cell-derived human cardiomyocytes (iPSC-hCMs) have become a promising model because they largely replicate the electrophysiological behavior of human ventricular cardiomyocytes. Patient-specific iPSC-hCMs have been proposed for personalized cardiac drug selection and adverse drug response prediction; however, many procedures are involved in cardiomyocytes differentiation and purification process, which may result in large line-to-line and batch-to-batch variations...
March 1, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
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