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Inseyah Bagasrawala, Fani Memi, Nevena V Radonjić, Nada Zecevic
N-methyl d-aspartate receptors (NMDARs), a subtype of glutamate receptor, have important functional roles in cellular activity and neuronal development. They are well-studied in rodent and adult human brains, but limited information is available about their distribution in the human fetal cerebral cortex. Here we show that 3 NMDAR subunits, NR1, NR2A, and NR2B, are expressed in the human cerebral cortex during the second trimester of gestation, a period of intense neurogenesis and synaptogenesis. With increasing fetal age, expression of the NMDAR-encoding genes Grin1 (NR1) and Grin2a (NR2A) increased while Grin2b (NR2B) expression decreased...
September 24, 2016: Cerebral Cortex
Kate Wolfe, André Strydom, Deborah Morrogh, Jennifer Carter, Peter Cutajar, Mo Eyeoyibo, Angela Hassiotis, Jane McCarthy, Raja Mukherjee, Dimitrios Paschos, Nagarajan Perumal, Stephen Read, Rohit Shankar, Saif Sharif, Suchithra Thirulokachandran, Johan H Thygesen, Christine Patch, Caroline Ogilvie, Frances Flinter, Andrew McQuillin, Nick Bass
Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England...
September 21, 2016: European Journal of Human Genetics: EJHG
Johanna I Kim, Jae-Won Kim, Jong-Eun Park, Subin Park, Soon-Beom Hong, Doug Hyun Han, Jae Hoon Cheong, Jae-Won Choi, Sumin Lee, Bung-Nyun Kim
OBJECTIVE: We investigated the possible association between two NMDA subunit gene polymorphisms (GRIN2B rs2284411 and GRIN2A rs2229193) and treatment response to methylphenidate (MPH) in attention-deficit/hyperactivity disorder (ADHD). METHODS: A total of 75 ADHD patients aged 6-17 years underwent 6 months of MPH administration. Treatment response was defined by changes in scores of the ADHD-IV Rating Scale (ADHD-RS), clinician-rated Clinical Global Impression-Improvement (CGI-I), and Continuous Performance Test (CPT)...
September 13, 2016: Journal of Psychopharmacology
Petra Heiden, Andreas Heinz, Nina Romanczuk-Seiferth
The incidence of pathological gambling in Parkinson's patients is significantly greater than in the general population. A correlation has been observed between dopamine agonist medication and the development of pathological gambling. However, scientists conjecture that the affected patients have underlying risk factors. Studies analysing Parkinson's patients have detected that patients who developed pathological gambling are younger, score higher on novelty-seeking tests, are more impulsive and are more likely to have a personal or family history of alcohol addiction...
September 13, 2016: European Journal of Neuroscience
Yuto Takasaki, Takayoshi Koide, Chenyao Wang, Hiroki Kimura, Jingrui Xing, Itaru Kushima, Kanako Ishizuka, Daisuke Mori, Mariko Sekiguchi, Masashi Ikeda, Miki Aizawa, Naoko Tsurumaru, Yoshimi Iwayama, Akira Yoshimi, Yuko Arioka, Mami Yoshida, Hiromi Noma, Tomoko Oya-Ito, Yukako Nakamura, Shohko Kunimoto, Branko Aleksic, Yota Uno, Takashi Okada, Hiroshi Ujike, Jun Egawa, Hitoshi Kuwabara, Toshiyuki Someya, Takeo Yoshikawa, Nakao Iwata, Norio Ozaki
N-methyl-d-aspartate receptors (NMDARs) play a critical role in excitatory synaptic transmission and plasticity in the central nervous systems. Recent genetics studies in schizophrenia (SCZ) show that SCZ is susceptible to NMDARs and the NMDAR signaling complex. In autism spectrum disorder (ASD), several studies report dysregulation of NMDARs as a risk factor for ASD. To further examine the association between NMDARs and SCZ/ASD development, we conducted a mutation screening study of GRIN2B which encodes NR2B subunit of NMDARs, to identify rare mutations that potentially cause diseases, in SCZ and ASD patients (n = 574 and 152, respectively)...
2016: Scientific Reports
Robert Smigiel, Grazyna Kostrzewa, Joanna Kosinska, Agnieszka Pollak, Piotr Stawinski, Elzbieta Szmida, Michal Bloch, Krystyna Szymanska, Pawel Karpinski, Maria M Sasiadek, Rafal Ploski
Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or severe sub-clinical epileptiform activity are accompanied by impairment of motor and cognitive functions. Mutations in several genes including ion channels and other genes whose function is not completely understood have been associated to some EE. In this report, we provide a detailed clinical description of a sporadic male patient with early-onset epilepsy and epileptic encephalopathy in whom we performed complete exome sequencing (WES) and identified a GRIN2B mutation...
September 8, 2016: American Journal of Medical Genetics. Part A
Andrés D Klein, Natalia-Santos Ferreira, Shifra Ben-Dor, Jingjing Duan, John Hardy, Timothy M Cox, Alfred H Merrill, Anthony H Futerman
Diseases caused by single-gene mutations can display substantial phenotypic variability, which may be due to genetic, environmental, or epigenetic modifiers. Here, we induce Gaucher disease (GD), a rare inherited metabolic disorder, by injecting 15 inbred mouse strains with a low dose of a chemical inhibitor of acid β-glucosidase, the enzyme defective in GD. Different mouse strains exhibit widely different lifespans, which is unrelated to levels of acid β-glucosidase's substrate accumulation. Genome-wide association reveals a number of candidate risk loci, including a marker within Grin2b, which in combination with another marker allows us to predict the lifespan of additional mouse strains...
September 6, 2016: Cell Reports
Sara Mascheretti, Vittoria Trezzi, Roberto Giorda, Michel Boivin, Vickie Plourde, Frank Vitaro, Mara Brendgen, Ginette Dionne, Cecilia Marino
BACKGROUND: Developmental dyslexia (DD) and attention deficit/hyperactivity disorder (ADHD) are among the most common neurodevelopmental disorders, whose etiology involves multiple risk factors. DD and ADHD co-occur in the same individuals much more often than would be expected by chance. Several studies have found significant bivariate heritability, and specific genes associated with either DD or ADHD have been investigated for association in the other disorder. Moreover, there are likely to be gene-by-gene and gene-by-environment interaction effects (G × G and G × E, respectively) underlying the comorbidity between DD and ADHD...
August 8, 2016: Journal of Child Psychology and Psychiatry, and Allied Disciplines
Shareefa Dalvie, Samantha J Brooks, Valerie Cardenas, George Fein, Raj Ramesar, Dan J Stein
OBJECTIVE: Brain structure differences and adolescent alcohol dependence both show substantial heritability. However, exactly which genes are responsible for brain volume variation in adolescents with substance abuse disorders are currently unknown. The aim of this investigation was to determine whether genetic variants previously implicated in psychiatric disorders are associated with variation in brain volume in adolescents with alcohol use disorder (AUD). METHODS: The cohort consisted of 58 adolescents with DSM-IV AUD and 58 age and gender-matched controls of mixed ancestry ethnicity...
August 8, 2016: Acta Neuropsychiatrica
Zhenming Guo, Weibo Niu, Yan Bi, Rui Zhang, Decheng Ren, Jiaxin Hu, Xiaoye Huang, Xi Wu, Yanfei Cao, Fengping Yang, Lu Wang, Weidong Li, Xingwang Li, Yifeng Xu, Lin He, Tao Yu, Guang He
Schizophrenia is a severe and complex mental disorder with high heritability. There is evidence that mutations in the gene of Nmethyl-d-aspartate-type glutamate receptors (NMDAR) are associated with schizophrenia. GRIN2B encodes a subunit of NMDARs, and has been identified as a candidate gene for many psychiatric disorders, especially schizophrenia. In this study, we investigated whether single nucleotide polymorphisms (SNPs) in GRIN2B were associated with schizophrenia. Four SNPs (rs890, rs1806191, rs219872, rs172677) were genotyped in 752 schizophrenic patients and 846 healthy controls of the Chinese Han population...
September 6, 2016: Neuroscience Letters
Fabiana Barzotti Kohlrausch, Isabele Gomes Giori, Fernanda Brito Melo-Felippe, Tamiris Vieira-Fonseca, Luis Guillermo Coca Velarde, Juliana Braga de Salles Andrade, Leonardo Franklin Fontenelle
The etiology of OCD is largely unknown, but neuroimaging and pharmacological studies suggest that glutamatergic system plays a significant role on OCD development. We genotyped one polymorphism at GRIN2B (rs1019385) by real time Polymerase Chain Reaction in a sample of Brazilian Obsessive-Compulsive patients and healthy controls, and evaluated its influence on OCD. We found the T-allele and TT genotype to be significantly associated with OCD and ordering dimension. The T-allele was also significantly associated with checking...
September 30, 2016: Psychiatry Research
Soumya Krishnamoorthy, Roopa Rajan, Moinak Banerjee, Hardeep Kumar, Gangadhara Sarma, Syam Krishnan, Sankara Sarma, Asha Kishore
INTRODUCTION: Impulse control disorders (ICD) are reported to occur at variable frequencies in different ethnic groups. Genetic vulnerability is suspected to underlie the individual risk for ICD. We investigated whether the allelic variants of dopamine (DRD3), glutamate (GRIN2B) and serotonin (HTR2A) receptors are linked to ICD in Indian Parkinson's disease (PD) patients. METHODS: We conducted a prospective, case-control study which included PD patients (70 with ICD, 100 without ICD categorized after direct psychiatric interview of patient and caregiver) and 285 healthy controls...
September 2016: Parkinsonism & related Disorders
M V Alfimova, V E Golimbet, G I Korovaitseva, L I Abramova, T V Lezheiko, E V Aksenova
OBJECTIVE: To search for the association between the GRIN2B gene and signs of thought and speech disorders which may be the result of decreased accessibility to the mental lexicon. MATERIAL AND METHODS: The association between the GRIN2B polymorphism rs7301328 with semantic verbal fluency and five symptoms of thought and speech disorders, as assessed with the PANSS, was studied in 552 patients with schizophrenia-spectrum disorders. RESULTS AND CONCLUSION: There was the association of the GRIN2B gene with verbal fluency and the PANSS item «Difficulty in Abstract Thinking»...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Johanna Inhyang Kim, Jae-Won Kim, Subin Park, Soon-Beom Hong, Dong Soo Lee, Sun Ha Paek, Doug Hyun Han, Jae Hoon Cheong, Bung-Nyun Kim
OBJECTIVE: To examine the association between variants of N-methyl-D-aspartate (NMDA) receptor subunit-encoding genes (GRIN2A and GRIN2B) and continuous performance test (CPT) variables in ADHD and healthy controls. METHOD: In all, 253 ADHD patients and 98 controls were recruited. The diagnosis, genotype, and diagnosis-genotype interaction effects for the CPT variables were examined. RESULTS: Significant diagnosis effects were detected for all CPT variables...
May 19, 2016: Journal of Attention Disorders
Rachel L Miller, Zhonghai Yan, Christina Maher, Hanjie Zhang, Kathryn Gudsnuk, Jacob McDonald, Frances A Champagne
Prenatal exposure to polycyclic aromatic hydrocarbons (PAH) has been associated with sustained effects on the brain and behavior in offspring. However, the mechanisms have yet to be determined. We hypothesized that prenatal exposure to ambient PAH in mice would be associated with impaired neurocognition, increased anxiety, altered cortical expression of Bdnf and Grin2b, and greater DNA methylation of Bdnf. Our results indicated that during open-field testing, prenatal PAH exposed offspring spent more time immobile and less time exploring...
March 2016: Neuroepigenetics
Zhihui Xie, Jing Li, Jonathan Baker, Kathie L Eagleson, Marcelo P Coba, Pat Levitt
BACKGROUND: Atypical synapse development and plasticity are implicated in many neurodevelopmental disorders (NDDs). NDD-associated, high-confidence risk genes have been identified, yet little is known about functional relationships at the level of protein-protein interactions, which are the dominant molecular bases responsible for mediating circuit development. METHODS: Proteomics in three independent developing neocortical synaptosomal preparations identified putative interacting proteins of the ligand-activated MET receptor tyrosine kinase, an autism risk gene that mediates synapse development...
February 26, 2016: Biological Psychiatry
Julia Kraemmer, Kara Smith, Daniel Weintraub, Vincent Guillemot, Mike A Nalls, Florence Cormier-Dequaire, Ivan Moszer, Alexis Brice, Andrew B Singleton, Jean-Christophe Corvol
OBJECTIVES: Impulse control disorders (ICD) are commonly associated with dopamine replacement therapy (DRT) in patients with Parkinson's disease (PD). Our aims were to estimate ICD heritability and to predict ICD by a candidate genetic multivariable panel in patients with PD. METHODS: Data from de novo patients with PD, drug-naïve and free of ICD behaviour at baseline, were obtained from the Parkinson's Progression Markers Initiative cohort. Incident ICD behaviour was defined as positive score on the Questionnaire for Impulsive-Compulsive Disorders in PD...
October 2016: Journal of Neurology, Neurosurgery, and Psychiatry
Michael S Hildebrand, Candace T Myers, Gemma L Carvill, Brigid M Regan, John A Damiano, Saul A Mullen, Mark R Newton, Umesh Nair, Elena V Gazina, Carol J Milligan, Christopher A Reid, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Heather C Mefford
OBJECTIVES: We report development of a targeted resequencing gene panel for focal epilepsy, the most prevalent phenotypic group of the epilepsies. METHODS: The targeted resequencing gene panel was designed using molecular inversion probe (MIP) capture technology and sequenced using massively parallel Illumina sequencing. RESULTS: We demonstrated proof of principle that mutations can be detected in 4 previously genotyped focal epilepsy cases...
April 26, 2016: Neurology
Xuanyao Liu, Chakravarthi Kanduri, Jaana Oikkonen, Kai Karma, Pirre Raijas, Liisa Ukkola-Vuoti, Yik-Ying Teo, Irma Järvelä
Abilities related to musical aptitude appear to have a long history in human evolution. To elucidate the molecular and evolutionary background of musical aptitude, we compared genome-wide genotyping data (641 K SNPs) of 148 Finnish individuals characterized for musical aptitude. We assigned signatures of positive selection in a case-control setting using three selection methods: haploPS, XP-EHH and FST. Gene ontology classification revealed that the positive selection regions contained genes affecting inner-ear development...
2016: Scientific Reports
Danielle L Taylor, Arun K Tiwari, Jeffrey A Lieberman, Steven G Potkin, Herbert Y Meltzer, Jo Knight, Gary Remington, Daniel J Müller, James L Kennedy
OBJECTIVE: Approximately 30% of patients with schizophrenia fail to respond to antipsychotic therapy and are classified as having treatment-resistant schizophrenia. Clozapine is the most efficacious drug for treatment-resistant schizophrenia and may deliver superior therapeutic effects partly by modulating glutamate neurotransmission. Response to clozapine is highly variable and may depend on genetic factors as indicated by twin studies. We investigated eight polymorphisms in the N-methyl-d-aspartate glutamate receptor subunit gene GRIN2B with response to clozapine...
March 2016: Human Psychopharmacology
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