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Neuropsychiatric genetics

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https://www.readbyqxmd.com/read/29331932/cnv-biology-in-neurodevelopmental-disorders
#1
REVIEW
Toru Takumi, Kota Tamada
Copy number variants (CNVs), characterized in recent years by cutting-edge technology, add complexity to our knowledge of the human genome. CNVs contribute not only to human diversity but also to different kinds of diseases including neurodevelopmental delay, autism spectrum disorder and neuropsychiatric diseases. Interestingly, many pathogenic CNVs are shared among these diseases. Studies suggest that pathophysiology of disease may not be simply attributed to a single driver gene within a CNV but also that multifactorial effects may be important...
January 10, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29329089/neural-circuit-dysfunction-in-mouse-models-of-neurodevelopmental-disorders
#2
REVIEW
Isabel Del Pino, Beatriz Rico, Oscar Marín
Neuropsychiatric disorders arise from the alteration of normal brain developmental trajectories disrupting the function of specific neuronal circuits. Recent advances in human genetics have greatly accelerated the identification of genes whose variation increases the susceptibility for neurodevelopmental disorders, most notably for autism spectrum disorder (ASD) and schizophrenia. In parallel, experimental studies in animal models-most typically in mice-are beginning to shed light on the role of these genes in the development and function of specific brain circuits...
January 9, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29325623/tourette-disorder-and-other-tic-disorders
#3
Thomas V Fernandez, Matthew W State, Christopher Pittenger
Tourette disorder is a developmental neuropsychiatric condition characterized by vocal and motor tics that can range in severity from mild to disabling. It represents one end of a spectrum of tic disorders and is estimated to affect 0.5-0.7% of the population. Accumulated evidence supports a substantial genetic contribution to disease risk, but the identification of genetic variants that confer risk has been challenging. Positive findings in candidate gene association studies have not replicated, and genomewide association studies have not generated signals of genomewide significance, in large part because of inadequate sample sizes...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29317742/psychiatric-genetics-and-the-structure-of-psychopathology
#4
REVIEW
Jordan W Smoller, Ole A Andreassen, Howard J Edenberg, Stephen V Faraone, Stephen J Glatt, Kenneth S Kendler
For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent, external validators, such as longitudinal course and response to treatment. In the absence of an established etiology, psychiatry has struggled to validate these descriptive syndromes, and to define the boundaries between disorders and between normal and pathologic variation...
January 9, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29307083/in-thai-nationals-the-apoe4-allele-affects-multiple-domains-of-neuropsychological-biobehavioral-and-social-functioning-thereby-contributing-to-alzheimer-s-disorder-while-the-apoe3-allele-protects-against-neuropsychiatric-symptoms-and-psychosocial-deficits
#5
Sookjaroen Tangwongchai, Thitiporn Supasitthumrong, Solaphat Hemrunroj, Chavit Tunvirachaisakul, Phenphichcha Chuchuen, Natnicha Houngngam, Thiti Snabboon, Ittipol Tawankanjanachot, Yuthachai Likitchareon, Kamman Phanthumchindad, Michael Maes
The apolipoprotein E epsilon 4 (ApoE4) allele is the strongest genetic risk factor for Alzheimer's disorder (AD) and is associated with semantic and episodic memory deficits. The aim of this study was to examine the associations between ApoE alleles (E2, E3, E4) and genotypes and neuropsychological tests, behavioral functions, and dementia symptoms as assessed using Consortium to Establish a Registry for Alzheimer's Disease (CERAD). This study included 60 patients with Alzheimer's disorder (AD), 60 with mild cognitive disorder (MCI), and 62 normal volunteers...
January 6, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29302206/maternal-separation-does-not-produce-a-significant-behavioral-change-in-mice
#6
Shawn Tan, Hin San Ho, Anna Yoonsu Song, Joey Low, Hyunsoo Shawn Je
Early life adversities together with genetic predispositions have been associated with elevated risks of neuropsychiatric disorders during later life. In order to investigate the underlying mechanisms, many chronic, early-life stress paradigms in multiple animal models have been developed. Previously, studies reported that maternal separation (MS) in the early postnatal stages triggers depression-and/or anxiety-like behaviors in rats. However, similar studies using mice have reported inconsistent behavioral outcomes...
December 2017: Experimental Neurobiology
https://www.readbyqxmd.com/read/29299922/stabilization-of-human-tyrosine-hydroxylase-in-maltodextrin-nanoparticles-for-delivery-to-neuronal-cells-and-tissue
#7
Maria Teresa Bezem, Fredrik Gullaksen Johannessen, Kunwar Jung-Kc, Edvin Tang Gundersen, Ana Jorge-Finnigan, Ming Ying, Didier Betbeder, Lars Herfindal, Aurora Martinez
Enzyme replacement therapy (ERT) is a therapeutic approach envisioned decades ago for the correction of genetic disorders, but it is only after improvements in recombinant protein expression and purification that the applicability of this approach has increased. Customarily, ERT has been less successful for the correction of disorders with neurological manifestations. In this work we have tested the functionality of nanoparticles (NP) composed of maltodextrin with a lipid core to bind and stabilize tyrosine hydroxylase (TH), which is a complex and unstable brain enzyme that catalyzes the rate limiting step in the synthesis of dopamine and other catecholamine neurotransmitters...
January 4, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29279995/type-a-and-b-monoamine-oxidases-distinctly-modulate-signal-transduction-pathway-and-gene-expression-to-regulate-brain-function-and-survival-of-neurons
#8
REVIEW
Makoto Naoi, Wakako Maruyama, Masayo Shamoto-Nagai
Type A and B monoamine oxidases (MAO-A, -B) mediate and modulate intracellular signal pathways for survival or death of neuronal cells. MAO-A is associated with development of neuronal architecture, synaptic activity, and onset of psychiatric disorders, including depression, and antisocial aggressive impulsive behaviors. MAO-B produces hydrogen peroxide and plays a vital role in neuronal loss of neurodegenerative disorders, such as Parkinson's and Alzheimer's diseases. This review presents a novel role of MAO-A and B, their substrates and inhibitors, and hydrogen peroxide in brain function and neuronal survival and death...
December 26, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29278530/controversies-and-clarifications-in-the-classification-of-disorders-of-intellectual-development-new-genetic-findings-epilepsy-and-innovative-developmental-neuropsychiatric-treatments-deep-brain-stimulation-electroconvulsive-therapy-and-oxytocin
#9
https://www.readbyqxmd.com/read/29259522/applications-of-crispr-cas9-in-the-mammalian-central-nervous-system%C3%A2-%C3%A2
#10
REVIEW
Katherine E Savell, Jeremy J Day
Within the central nervous system, gene regulatory mechanisms are crucial regulators of cellular development and function, and dysregulation of these systems is commonly observed in major neuropsychiatric and neurological disorders. However, due to a lack of tools to specifically modulate the genome and epigenome in the central nervous system, many molecular and genetic mechanisms underlying cognitive function and behavior are still unknown. Although genome editing tools have been around for decades, the recent emergence of inexpensive, straightforward, and widely accessible CRISPR/Cas9 systems has led to a revolution in gene editing...
December 2017: Yale Journal of Biology and Medicine
https://www.readbyqxmd.com/read/29249816/novel-schizophrenia-risk-factor-pathways-regulate-fez1-to-advance-oligodendroglia-development
#11
REVIEW
Xianjun Chen, Li Ku, Ruyi Mei, Guanglu Liu, Chongchong Xu, Zhexing Wen, Xiaofeng Zhao, Fei Wang, Lan Xiao, Yue Feng
Neuropsychiatric disorders, represented by schizophrenia, affect not only neurons but also myelinating oligodendroglia (OL), both contribute to the complex etiology. Although numerous susceptibility genes for schizophrenia have been identified, their function has been primarily studied in neurons. Whether malfunction of risk genes underlies OL defects in schizophrenia pathogenesis remains poorly understood. In this study, we investigated the function and regulation of the well-recognized schizophrenia risk factor, Fasciculation and Elongation Protein Zeta-1 (FEZ1), in OL...
December 18, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/29249220/drd3-ser9gly-polymorphism-and-its-influence-on-risperidone-response-in-autistic-children
#12
Negar Firouzabadi, Anna Nazariat, Kamiar Zomorrodian
PURPOSE: Autism, a neuropsychiatric illness, is a complex ailment of mainly indefinite cause. Although precise pathophysiological mechanism is unclear but the role of genetics is undeniable therefore pharmacogenetics may assist to a better management of symptoms. Risperidone is widely used in autism. Considering the significance of dopaminergic system in psychological and neurological diseases and its association with autism, the hypothesis that genetic variant of dopamine receptor (DRD3), Ser9Gly (rs6280), may influence treatment of autism may be assumed...
2017: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29246092/improvement-of-self-injury-with-dopamine-and-serotonin-replacement-therapy-in-a-patient-with-a-hemizygous-pak3-mutation-a-new-therapeutic-strategy-for-neuropsychiatric-features-of-an-intellectual-disability-syndrome
#13
Gabriella A Horvath, Maja Tarailo-Graovac, Tanja Bartel, Simone Race, Margot I Van Allen, Ingrid Blydt-Hansen, Colin J Ross, Wyeth W Wasserman, Mary B Connolly, Clara D M van Karnebeek
PAK3-related intellectual disability is caused by mutations in the gene encoding the p21-activated kinase (PAK) protein. It is characterized by mild to moderate cognitive impairment, micro/normocephaly, and a neurobehavioral phenotype characterized by short attention span, anxiety, restlessness, aggression, and self-abusive behaviors. The authors report a patient with a novel PAK3 mutation, who presented with intellectual disability, severe automutilation, and epilepsy. His magnetic resonance imaging changes were most likely secondary to lacerations from parenchymal contusions...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29244246/role-of-rna-modifications-in-brain-and-behavior
#14
REVIEW
Kornel E Schuebel, Yonwoo Jung, David Goldman
Much progress in our understanding of RNA metabolism has been made since the first RNA modification was identified in 1957. To date, more than 100 distinct chemical modifications have been identified, and more await discovery. Many of these modifications are found in non-coding RNAs but recent studies suggest an important role for RNA modification in coding RNAs as well. Here we summarize current knowledge of cellular consequences of RNA modifications, with a special emphasis on neuropsychiatric disorders. We present evidence for the existence of an "RNA code", similar to the histone code, that fine-tunes gene expression in the nervous system by using combinations of different RNA modifications...
December 15, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29243543/a-kainate-receptor-gluk4-deletion-protective-against-bipolar-disorder-is-associated-with-enhanced-cognitive-performance-across-diagnoses-in-the-twinsuk-cohort
#15
Maria Koromina, Miles Flitton, Ian Mellor, Helen Miranda Knight
OBJECTIVES: Cognitive deficits are a common feature of neuropsychiatric disorders. We investigated the relationship between cognitive performance and a deletion allele within GluK4 protective against risk for bipolar disorder, in 1642 individuals from the TwinsUK study. METHODS: Cognitive performance was assessed using the National Adult Reading Test, four CANTAB tests (Spatial Working Memory, Paired Associates Learning, Pattern Recognition Memory, and Reaction Time), and two Principal Component Analysis derived factors...
December 15, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29231139/catechol-o-methyltransferase-cognition-and-alzheimer-s-disease
#16
Matea Nikolac Perkovic, Dubravka Svob Strac, Lucija Tudor, Marcela Konjevod, Gordana Nedic Erjavec, Nela Pivac
OBJECTIVE: Cognition is a complex trait representing a set of all mental abilities and processes related to knowledge. Although diverse brain regions are involved, most cognitive processes appear to engage cortical regions. The activity of dopaminergic neurons in prefrontal cortex represents a biological substrate underlying cognitive functions. Alzheimer's disease (AD) is the most frequent dementia associated with cognitive impairments. Cognitive impairment in AD starts slow with discrete deterioration in memory, language, thinking and reasoning, but it progresses into more severe and debilitating cognitive dysfunction...
December 11, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/29230395/thc-treatment-alters-glutamate-receptor-gene-expression-in-human-stem-cell-derived-neurons
#17
Ifeanyi V Obiorah, Hamza Muhammad, Khalifa Stafford, Erin K Flaherty, Kristen J Brennand
Given the cognitive and behavioral effects following in utero Δ9-tetrahydrocannabinol (THC) exposure that have been reported in humans and rodents, it is critical to understand the precise consequences of THC on developing human neurons. Here, we utilize excitatory neurons derived from human-induced pluripotent stem cells (hiPSCs), and report that in vitro THC exposure reduced expression of glutamate receptor subunit genes (GRIA1, GRIA2, GRIN2A, and GRIN2B). By expanding these studies across hiPSC-derived neurons from individuals with a variety of genotypes, we believe that a hiPSC-based model will facilitate studies of the interaction of THC exposure and the genetic risk factors underlying neuropsychiatric disease vulnerability...
November 2017: Molecular Neuropsychiatry
https://www.readbyqxmd.com/read/29225330/huntingtin-gene-repeat-size-variations-affect-risk-of-lifetime-depression
#18
REVIEW
Sarah L Gardiner, Martine J van Belzen, Merel W Boogaard, Willeke M C van Roon-Mom, Maarten P Rozing, Albert M van Hemert, Johannes H Smit, Aartjan T F Beekman, Gerard van Grootheest, Robert A Schoevers, Richard C Oude Voshaar, Raymund A C Roos, Hannie C Comijs, Brenda W J H Penninx, Roos C van der Mast, N Ahmad Aziz
Huntington disease (HD) is a severe neuropsychiatric disorder caused by a cytosine-adenine-guanine (CAG) repeat expansion in the HTT gene. Although HD is frequently complicated by depression, it is still unknown to what extent common HTT CAG repeat size variations in the normal range could affect depression risk in the general population. Using binary logistic regression, we assessed the association between HTT CAG repeat size and depression risk in two well-characterized Dutch cohorts─the Netherlands Study of Depression and Anxiety and the Netherlands Study of Depression in Older Persons─including 2165 depressed and 1058 non-depressed persons...
December 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/29221905/neurexins-and-neuropsychiatric-disorders
#19
REVIEW
Enas Kasem, Taiga Kurihara, Katsuhiko Tabuchi
Neurexins are a family of presynaptic single-pass transmembrane proteins that act as synaptic organizers in mammals. The neurexins consist of three genes (NRXN1, NRXN2, and NRXN3), each of which produces a longer α- and shorter β-form. Genomic alterations in NRXN genes have been identified in a wide variety of neuropsychiatric disorders, including autism spectrum disorders (ASD), schizophrenia, intellectual disability (ID), and addiction. Remarkably, a bi-allelic deficiency of NRXN1 was recently linked to Pitt-Hopkins syndrome...
December 5, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29214565/intellectual-disability-rare-disorders-a-diagnostic-challenge
#20
Malin Kvarnung, Ann Nordgren
Rare disorders constitute a large and heterogeneous group of diagnoses of which many cause chronic disabilities with significant impact on the lives of affected individuals and their families as well as on the health-care system. Each individual disorder is rare, but when considered as a group, rare disorders are common with a total prevalence of approximately 6-8%. The clinical presentation of these disorders includes a broad diversity of symptoms and signs, often involving the nervous system and resulting in symptoms such as intellectual disability, neuropsychiatric disorders, epilepsy and motor dysfunction...
2017: Advances in Experimental Medicine and Biology
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