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CACNA1C cognition

Fanfan Zheng, Yue Cui, Hao Yan, Bing Liu, Tianzi Jiang
Schizophrenia is a highly heritable disorder with multiple susceptibility genes. Previously, we identified CACNA1C rs2007044 as a new risk locus for schizophrenia, with the minor allele G as risk allele. This association was recently validated by a powerful genome-wide association study. However, the underlying neural mechanisms remain unclear. Therefore, we tested whether the risk allele has an influence on cortical surface area and thickness in a sample of schizophrenia patients and healthy controls. We found significant genotype by diagnosis interactions on cortical surface area, but not thickness, in the right dorsolateral prefrontal cortex and the left superior parietal cortex, both of which are key components of the central executive network...
September 29, 2016: Scientific Reports
Patricia Gassó, Vanessa Sánchez-Gistau, Sergi Mas, Gisela Sugranyes, Natalia Rodríguez, Daniel Boloc, Elena de la Serna, Soledad Romero, Dolores Moreno, Carmen Moreno, Covadonga M Díaz-Caneja, Amalia Lafuente, Josefina Castro-Fornieles
Schizophrenia (SZ) and bipolar disorder (BD) are severe mental diseases associated with cognitive impairment, mood disturbance, and psychosis. Both disorders are highly heritable and share a common genetic background. The present study assesses, for the first time, differences in genotype frequencies of polymorphisms located in genes involved in neurodevelopment and synaptic plasticity between genetic high-risk individuals (offspring of patients with SZ or BD; N=100: 31 and 69, respectively) and control subjects (offspring of community controls; N=96)...
November 30, 2016: Psychiatry Research
Sindre Rolstad, Carl Sellgren Majkowitz, Erik Joas, Carl Johan Ekman, Erik Pålsson, Mikael Landén
INTRODUCTION: The cause of cognitive dysfunction in bipolar disorder (BD) is not well understood. BDNF and CACNA1C are two susceptibility genes for the disorder that have also been reported to be associated with cognitive deficits in the disorder, but the studies have been small and with conflicting results. We therefore attempted to replicate an association between cognitive dysfunction with the most commonly studied single nucleotide polymorphisms rs6265 and rs1006737. METHODS: Regression models with five aggregated cognitive domains derived from a comprehensive test battery and IQ score were run using directly genotyped risk variants of SNPs rs6265 and rs1006737 as predictors with covariates as appropriate...
2016: Cognitive Neuropsychiatry
Z D Kabir, A S Lee, A M Rajadhyaksha
Brain Cav 1.2 and Cav 1.3 L-type Ca(2+) channels play key physiological roles in various neuronal processes that contribute to brain function. Genetic studies have recently identified CACNA1C as a candidate risk gene for bipolar disorder (BD), schizophrenia (SCZ), major depressive disorder (MDD) and autism spectrum disorder (ASD), and CACNA1D for BD and ASD, suggesting a contribution of Cav 1.2 and Cav 1.3 Ca(2+) signalling to the pathophysiology of neuropsychiatric disorders. Once considered sole clinical entities, it is now clear that BD, SCZ, MDD and ASD share common phenotypic features, most likely due to overlapping neurocircuitry and common molecular mechanisms...
October 15, 2016: Journal of Physiology
Vanessa Nieratschker, Christof Brückmann, Christian Plewnia
Recognition and correct interpretation of facial emotion is essential for social interaction and communication. Previous studies have shown that impairments in this cognitive domain are common features of several psychiatric disorders. Recent association studies identified CACNA1C as one of the most promising genetic risk factors for psychiatric disorders and previous evidence suggests that the most replicated risk variant in CACNA1C (rs1006737) is affecting emotion recognition and processing. However, studies investigating the influence of rs1006737 on this intermediate phenotype in healthy subjects at the behavioral level are largely missing to date...
2015: Scientific Reports
Panos Zanos, Shambhu Bhat, Chantelle E Terrillion, Robert J Smith, Leonardo H Tonelli, Todd D Gould
Increased calcium influx through L-type voltage-gated calcium channels has been implicated in the neuronal dysfunction underlying age-related memory declines. The present study aimed to test the specific role of Cacna1c (which encodes Cav 1.2) in modulating age-related memory dysfunction. Short-term, spatial and contextual/emotional memory was evaluated in young and aged, wild-type as well as mice with one functional copy of Cacna1c (haploinsufficient), using the novel object recognition, Y-maze and passive avoidance tasks, respectively...
October 2015: European Journal of Neuroscience
Puay San Woon, Min Yi Sum, Carissa Nadia Kuswanto, Guo Liang Yang, Yih Yian Sitoh, Tuck Wah Soong, Tih Shih Lee, Wieslaw Lucjan Nowinski, Kang Sim
OBJECTIVE: Recent genomewide association studies have implicated the calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C) genetic variant in schizophrenia, which is associated with functional brain changes and cognitive deficits in healthy individuals. However, the impact of CACNA1C on brain white matter integrity in schizophrenia remains unclear. On the basis of prior evidence of CACNA1C-mediated changes involving cortical brain regions, we hypothesize that CACNA1C risk variant rs1006737 is associated with reductions of white matter integrity in the frontal, parietal, and temporal regions and cingulate gyrus...
November 2014: Journal of Clinical Psychiatry
T M Lancaster, E A Heerey, K Mantripragada, D E J Linden
The variant at rs1006737 in the L-type voltage-gated calcium channel (alpha 1c subunit) CACNA1C gene is reliably associated with both bipolar disorder and schizophrenia. We investigated whether this risk variant affects reward responsiveness because reward processing is one of the central cognitive-motivational domains implicated in both disorders. In a sample of 164 young, healthy individuals, we show a dose-dependent response, where the rs1006737 risk genotype was associated with blunted reward responsiveness, whereas discriminability did not significantly differ between genotype groups...
October 7, 2014: Translational Psychiatry
Stefan M Berger, Dusan Bartsch
The use of specific activators and inhibitors that penetrate the central nervous system has suggested an essential functional role of L-type calcium channels (LTCC) in several important physiological processes of the brain, including the modulation of the mesoaccumbal dopamine signalling pathway, synaptic transmission of auditory stimuli and synaptic plasticity of neutral and aversive learning and memory processes. However, the lack of selectivity of available pharmacological agents towards the most prominent LTCC isoforms in the brain, namely Cav1...
August 2014: Cell and Tissue Research
Thomas W Frazier, Eric A Youngstrom, Brian A Frankel, Giovana B Zunta-Soares, Marsal Sanches, Michael Escamilla, David A Nielsen, Jair C Soares
BACKGROUND: Four of the most consistently replicated variants associated with mood disorder occur in genes important for synaptic function: ANK3 (rs10994336), BDNF (rs6265), CACNA1C (rs1006737), and DGKH (rs1170191). AIMS: The present study examined associations between these candidates, mood disorder diagnoses, cognition, and fronto-limbic regions implicated in affect regulation. METHODS AND MATERIALS: Participants included 128 individuals with bipolar disorder (33% male, Mean age = 38...
May 2014: Brain and Behavior
Sebastian Fröhler, Moritz Kieslich, Claudia Langnick, Mirjam Feldkamp, Bernd Opgen-Rhein, Felix Berger, Joachim C Will, Wei Chen
BACKGROUND: Long-QT syndrome (LQTS) causes a prolongation of the QT-interval in the ECG leading to life threatening tachyarrhythmia and ventricular fibrillation. One atypical form of LQTS, Timothy syndrome (TS), is associated with syndactyly, immune deficiency, cognitive and neurological abnormalities as well as distinct cranio-facial abnormalities. CASE PRESENTATION: On a family with both children diagnosed with clinical LQTS, we performed whole exome sequencing to comprehensively screen for causative mutations after a targeted candidate gene panel screen for Long-QT syndrome target genes failed to identify any underlying genetic defect...
2014: BMC Medical Genetics
E S Gershon, K Grennan, J Busnello, J A Badner, F Ovsiew, S Memon, N Alliey-Rodriguez, J Cooper, B Romanos, C Liu
Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2 voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells. The major clinical feature of this syndrome is a long QT interval that results in cardiac arrhythmias. However, TS also includes cognitive impairment, autism and major developmental delays in many of the patients. We observed the appearance of bipolar disorder (BD) in a patient with a previously reported case of TS, who is one of the very few patients to survive childhood...
August 2014: Molecular Psychiatry
M Li, X-J Luo, M Rietschel, C M Lewis, M Mattheisen, B Müller-Myhsok, S Jamain, M Leboyer, M Landén, P M Thompson, S Cichon, M M Nöthen, T G Schulze, P F Sullivan, S E Bergen, G Donohoe, D W Morris, A Hargreaves, M Gill, A Corvin, C Hultman, A W Toga, L Shi, Q Lin, H Shi, L Gan, A Meyer-Lindenberg, D Czamara, C Henry, B Etain, J C Bis, M A Ikram, M Fornage, S Debette, L J Launer, S Seshadri, S Erk, H Walter, A Heinz, F Bellivier, J L Stein, S E Medland, A Arias Vasquez, D P Hibar, B Franke, N G Martin, M J Wright, B Su
Bipolar disorder (BD) is a polygenic disorder that shares substantial genetic risk factors with major depressive disorder (MDD). Genetic analyses have reported numerous BD susceptibility genes, while some variants, such as single-nucleotide polymorphisms (SNPs) in CACNA1C have been successfully replicated, many others have not and subsequently their effects on the intermediate phenotypes cannot be verified. Here, we studied the MDD-related gene CREB1 in a set of independent BD sample groups of European ancestry (a total of 64,888 subjects) and identified multiple SNPs significantly associated with BD (the most significant being SNP rs6785[A], P=6...
April 2014: Molecular Psychiatry
M G Soeiro-de-Souza, D S Bio, V V Dias, E Vieta, R Machado-Vieira, R A Moreno
OBJECTIVE: Calcium channels are important for converting electrical activity into biochemical events. A single nucleotide polymorphism (SNP) (rs1006737) in the CACNA1C gene has been strongly associated with increased risk for Bipolar disorder (BD) in genome-wide association studies. Recently, this same SNP has been reported to influence executive function in schizophrenia and controls, but it remains unclear whether this SNP affects behaviour, especially cognition in subjects with BD...
November 2013: Acta Psychiatrica Scandinavica
Hiroaki Hori, Noriko Yamamoto, Takashi Fujii, Toshiya Teraishi, Daimei Sasayama, Junko Matsuo, Yumiko Kawamoto, Yukiko Kinoshita, Miho Ota, Kotaro Hattori, Masahiko Tatsumi, Kunimasa Arima, Hiroshi Kunugi
Recent genetic association studies have identified the A-allele of rs1006737 within CACNA1C as a risk factor for schizophrenia as well as mood disorders. Some evidence suggests that this polymorphism plays a role in cognitive function both in schizophrenia patients and healthy individuals; however, the precise nature of this association remains unclear. Here we investigated the possible association of this polymorphism with a wide range of neurocognitive functions in schizophrenia patients and in healthy subjects...
2012: Scientific Reports
Baer Arts, Claudia J P Simons, Jim van Os
No abstract text is available yet for this article.
February 2013: Psychiatric Genetics
Emma Jane Rose, Gary Donohoe
Genetic variants associated with increased risk for schizophrenia (SZ) are hypothesized to be more penetrant at the level of brain structure and function than at the level of behavior. However, to date the relative sensitivity of imaging vs cognitive measures of these variants has not been quantified. We considered effect sizes associated with cognitive and imaging studies of 9 robust SZ risk genes (DAOA, DISC1, DTNBP1, NRG1, RGS4, NRGN, CACNA1C, TCF4, and ZNF804A) published between January 2005-November 2011...
May 2013: Schizophrenia Bulletin
Maarten J Van Den Bossche, Mojca Strazisar, Stephan De Bruyne, Chris Bervoets, An-Sofie Lenaerts, Sonia De Zutter, Annelie Nordin, Karl-Fredrik Norrback, Dirk Goossens, Peter De Rijk, Elaine K Green, Detelina Grozeva, Julien Mendlewicz, Nick Craddock, Bernard G Sabbe, Rolf Adolfsson, Daniel Souery, Jurgen Del-Favero
The GWAS-based association of CACNA1C with bipolar disorder (BPD) is one of the strongest genetic findings to date. CACNA1C belongs to the family of CACN genes encoding voltage-dependent calcium channels (VDCCs). VDCCs are involved in brain circuits and cognitive processes implicated in BPD and schizophrenia (SZ). Recently, it was shown that rare copy number variations (CNVs) are found at an increased frequency in SZ and to a lesser extent also in BPD, suggesting the involvement of CNVs in the causation of these diseases...
June 2012: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Márcio Gerhardt Soeiro-de-Souza, Maria Concepción Garcia Otaduy, Carolina Zadres Dias, Danielle S Bio, Rodrigo Machado-Vieira, Ricardo Alberto Moreno
INTRODUCTION: Impairments in facial emotion recognition (FER) have been reported in bipolar disorder (BD) during all mood states. FER has been the focus of functional magnetic resonance imaging studies evaluating differential activation of limbic regions. Recently, the α1-C subunit of the L-type voltage-gated calcium channel (CACNA1C) gene has been described as a risk gene for BD and its Met allele found to increase CACNA1C mRNA expression. In healthy controls, the CACNA1C risk (Met) allele has been reported to increase limbic system activation during emotional stimuli and also to impact on cognitive function...
December 1, 2012: Journal of Affective Disorders
Qiumei Zhang, Qiuge Shen, Zhansheng Xu, Min Chen, Lina Cheng, Jinguo Zhai, Huang Gu, Xin Bao, Xiongying Chen, Keqin Wang, Xiaoxiang Deng, Feng Ji, Chuanxin Liu, Jun Li, Qi Dong, Chuansheng Chen
CACNA1C gene polymorphism (rs1006737) is a susceptibility factor for both schizophrenia (SCZ) and bipolar disorder (BP). However, its role in working memory, a cognitive function that is impaired in both diseases, is not clear. Using three samples, including healthy controls, patients with SCZ, and patients currently in manic episodes of BP, this study tested the association between the SNP rs1006737 and spatial working memory as measured by an N-back task and a dot pattern expectancy (DPX) task. Among SCZ patients and healthy controls, the clinical risk allele was associated with impaired working memory, but the association was either in opposite direction or non-significant in patients with BP...
February 2012: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
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