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https://www.readbyqxmd.com/read/29667298/distinct-chromatin-structures-at-the-monoamine-oxidase-a-maoa-promoter-correlate-with-allele-specific-expression-in-sh-sy5y-cells
#1
M Manca, V Pessoa, P Myers, A Pickles, J Hill, H Sharp, C Murgatroyd, V J Bubb, J P Quinn
Monoamine oxidase-A (MAOA) metabolises monoamines and is implicated in the pathophysiology of psychiatric disorders. A polymorphic repetitive DNA domain, termed the uVNTR (upstream variable number tandem repeat), located at the promoter of the MAOA gene is a risk factor for many of these disorders. MAOA is on the X chromosome suggesting gender could play a role in regulation. We analysed MAOA regulation in the human female cell line, SH-SY5Y, which is polymorphic for the uVNTR. This heterozygosity allowed us to correlate allele specific gene expression with allele specific transcription factor binding and epigenetic marks for MAOA...
April 18, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29666641/brief-overview-of-a-decade-of-genome-wide-association-studies-on-primary-hypertension
#2
REVIEW
Afifah Binti Azam, Elena Aisha Binti Azizan
Primary hypertension is widely believed to be a complex polygenic disorder with the manifestation influenced by the interactions of genomic and environmental factors making identification of susceptibility genes a major challenge. With major advancement in high-throughput genotyping technology, genome-wide association study (GWAS) has become a powerful tool for researchers studying genetically complex diseases. GWASs work through revealing links between DNA sequence variation and a disease or trait with biomedical importance...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29666571/pleiotropic-contribution-of-mecom-and-avpr1a-to-aggression-and-subcortical-brain-volumes
#3
Marjolein M J van Donkelaar, Martine Hoogman, Irene Pappa, Henning Tiemeier, Jan K Buitelaar, Barbara Franke, Janita Bralten
Reactive and proactive subtypes of aggression have been recognized to help parse etiological heterogeneity of this complex phenotype. With a heritability of about 50%, genetic factors play a role in the development of aggressive behavior. Imaging studies implicate brain structures related to social behavior in aggression etiology, most notably the amygdala and striatum. This study aimed to gain more insight into the pathways from genetic risk factors for aggression to aggression phenotypes. To this end, we conducted genome-wide gene-based cross-trait meta-analyses of aggression with the volumes of amygdala, nucleus accumbens and caudate nucleus to identify genes influencing both aggression and aggression-related brain volumes...
2018: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29666369/lithium-associated-transcriptional-regulation-of-crmp1-in-patient-derived-olfactory-neurons-and-symptom-changes-in-bipolar-disorder
#4
Charlee K McLean, Soumya Narayan, Sandra Y Lin, Narayan Rai, Youjin Chung, MariaMananita S Hipolito, Nicola G Cascella, John I Nurnberger, Koko Ishizuka, Akira S Sawa, Evaristus A Nwulia
There is growing evidence that lithium used in the treatment of bipolar disorder (BD) affects molecular targets that are involved in neuronal growth, survival, and maturation, but it remains unclear if neuronal alterations in any of these molecules predict specific symptom changes in BD patients undergoing lithium monotherapy. The goals of this study were to (a) determine which molecular changes in the olfactory neurons of symptomatic patients receiving lithium are associated with antimanic or antidepressant response, and (b) uncover novel intraneuronal regulatory mechanisms of lithium therapy...
April 18, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29661558/genetic-assessment-and-folate-receptor-autoantibodies-in-infantile-onset-cerebral-folate-deficiency-cfd-syndrome
#5
V Th Ramaekers, K Segers, J M Sequeira, M Koenig, L Van Maldergem, V Bours, U Kornak, E V Quadros
INTRODUCTION: Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. High-dose folinic acid treatment restores many neurologic deficits. STUDY AIMS AND METHODS: Among 36 patients from 33 families the infantile-onset CFD syndrome was diagnosed based on typical clinical features and low CSF folate...
March 3, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29658973/searching-for-ancient-balanced-polymorphisms-shared-between-neanderthals-and-modern-humans
#6
Lucas Henriques Viscardi, Vanessa Rodrigues Paixão-Côrtes, David Comas, Francisco Mauro Salzano, Diego Rovaris, Claiton Dotto Bau, Carlos Eduardo G Amorim, Maria Cátira Bortolini
Hominin evolution is characterized by adaptive solutions often rooted in behavioral and cognitive changes. If balancing selection had an important and long-lasting impact on the evolution of these traits, it can be hypothesized that genes associated with them should carry an excess of shared polymorphisms (trans- SNPs) across recent Homo species. In this study, we investigate the role of balancing selection in human evolution using available exomes from modern (Homo sapiens) and archaic humans (H. neanderthalensis and Denisovan) for an excess of trans-SNP in two gene sets: one associated with the immune system (IMMS) and another one with behavioral system (BEHS)...
January 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29656664/epigenetic-aging-in-major-depressive-disorder
#7
Laura K M Han, Moji Aghajani, Shaunna L Clark, Robin F Chan, Mohammad W Hattab, Andrey A Shabalin, Min Zhao, Gaurav Kumar, Lin Ying Xie, Rick Jansen, Yuri Milaneschi, Brian Dean, Karolina A Aberg, Edwin J C G van den Oord, Brenda W J H Penninx
OBJECTIVE: Major depressive disorder is associated with an increased risk of mortality and aging-related diseases. The authors examined whether major depression is associated with higher epigenetic aging in blood as measured by DNA methylation (DNAm) patterns, whether clinical characteristics of major depression have a further impact on these patterns, and whether the findings replicate in brain tissue. METHOD: DNAm age was estimated using all methylation sites in blood of 811 depressed patients and 319 control subjects with no lifetime psychiatric disorders and low depressive symptoms from the Netherlands Study of Depression and Anxiety...
April 16, 2018: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29656594/immune-imbalance-of-global-gene-expression-and-cytokine-chemokine-and-selectin-levels-in-the-brains-of-offspring-with-social-deficits-via-maternal-immune-activation
#8
Pei-Tan Hsueh, Hsi-Hsun Lin, Hsuan-Han Wang, Chiu-Lin Liu, Wei-Fen Ni, Jong-Kang Liu, Hsin-Hou Chang, Der-Shan Sun, Yao-Shen Chen, Ya-Lei Chen
The murine maternal immune activation (MIA) offspring model enables longitudinal studies to explore aberrant social behaviors similar to those observed in humans. High levels of cytokines, chemokines and cell adhesion molecules (CAM) have been found in the plasma and/or brains of psychiatric patients. We hypothesized that up-regulation of the systemic or brain immune response has an augmenting effect by potentially increasing the interplay between the neuronal and immune systems during the growth of the MIA offspring...
April 15, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29652574/transcriptomic-biomarkers-for-huntington-s-disease-are-gene-expression-signatures-in-whole-blood-reliable-biomarkers
#9
Maja Zadel, Aleš Maver, Anja Kovanda, Borut Peterlin
Huntington's disease (HD) is a severe neurodegenerative disorder manifesting as progressive impairment of motor function, cognitive decline, psychiatric symptoms, and immunological and endocrine dysfunction. We explored the consistency of blood transcriptomic biomarkers in HD based on a novel Slovene patient cohort and expert review of previous studies. HumanHT-12 v4 BeadChip microarrays were performed on the whole blood samples of a cohort of 23 HD mutation carriers and 23 controls to identify differentially expressed (DE) transcripts...
April 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29651138/gene-expression-links-functional-networks-across-cortex-and-striatum
#10
Kevin M Anderson, Fenna M Krienen, Eun Young Choi, Jenna M Reinen, B T Thomas Yeo, Avram J Holmes
The human brain is comprised of a complex web of functional networks that link anatomically distinct regions. However, the biological mechanisms supporting network organization remain elusive, particularly across cortical and subcortical territories with vastly divergent cellular and molecular properties. Here, using human and primate brain transcriptional atlases, we demonstrate that spatial patterns of gene expression show strong correspondence with limbic and somato/motor cortico-striatal functional networks...
April 12, 2018: Nature Communications
https://www.readbyqxmd.com/read/29650294/increased-methylation-at-an-unexplored-glucocorticoid-responsive-element-within-exon-1-d-of-nr3c1-gene-is-related-to-anxious-depressive-disorders-and-decreased-hippocampal-connectivity
#11
Helena Palma-Gudiel, Aldo Córdova-Palomera, Cristian Tornador, Carles Falcón, Núria Bargalló, Gustavo Deco, Lourdes Fañanás
Among the major psychiatric disorders, anxious-depressive disorders stand out as one of the more prevalent and more frequently associated with hypothalamic-pituitary-adrenal (HPA) axis abnormalities. Methylation at the exon 1F of the glucocorticoid receptor gene NR3C1 has been associated with both early stress exposure and risk for developing a psychiatric disorder; however, other NR3C1 promoter regions have been underexplored. Exon 1D emerges as a suggestive new target in stress-related disorders epigenetically sensitive to early adversity...
April 9, 2018: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29643329/shared-effects-of-disc1-disruption-and-elevated-wnt-signaling-in-human-cerebral-organoids
#12
Priya Srikanth, Valentina N Lagomarsino, Christina R Muratore, Steven C Ryu, Amy He, Walter M Taylor, Constance Zhou, Marlise Arellano, Tracy L Young-Pearse
The development of three-dimensional culture methods has allowed for the study of developing cortical morphology in human cells. This provides a new tool to study the neurodevelopmental consequences of disease-associated mutations. Here, we study the effects of isogenic DISC1 mutation in cerebral organoids. DISC1 has been implicated in psychiatric disease based on genetic studies, including its interruption by a balanced translocation that increases the risk of major mental illness. Isogenic wild-type and DISC1-disrupted human-induced pluripotent stem cells were used to generate cerebral organoids, which were then examined for morphology and gene expression...
April 12, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29628500/nargbp2-sapap-shank-the-core-postsynaptic-triad-associated-with-psychiatric-disorders
#13
REVIEW
Sang-Eun Lee, Jung Ah Kim, Sunghoe Chang
Despite the complex genetic architecture, a broad spectrum of psychiatric disorders can still be caused by mutation(s) in the same gene. These disorders are interrelated with overlapping causative mechanisms including variations in the interaction among the risk-associated proteins that may give rise to the specific spectrum of each disorder. Additionally, multiple lines of evidence implicate an imbalance between excitatory and inhibitory neuronal activity (E/I imbalance) as the shared key etiology. Thus, understanding the molecular mechanisms underlying E/I imbalance provides essential insight into the etiology of these disorders...
April 9, 2018: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29628042/a-comprehensive-analysis-of-nuclear-encoded-mitochondrial-genes-in-schizophrenia
#14
Vanessa F Gonçalves, Carolina Cappi, Christian M Hagen, Adolfo Sequeira, Marquis P Vawter, Andriy Derkach, Clement C Zai, Paula L Hedley, Jonas Bybjerg-Grauholm, Jennie G Pouget, Ari B Cuperfain, Patrick F Sullivan, Michael Christiansen, James L Kennedy, Lei Sun
BACKGROUND: The genetic risk factors of schizophrenia (SCZ), a severe psychiatric disorder, are not yet fully understood. Multiple lines of evidence suggest that mitochondrial dysfunction may play a role in SCZ, but comprehensive association studies are lacking. We hypothesized that variants in nuclear-encoded mitochondrial genes influence susceptibility to SCZ. METHODS: We conducted gene-based and gene-set analyses using summary association results from the Psychiatric Genomics Consortium Schizophrenia Phase 2 (PGC-SCZ2) genome-wide association study comprising 35,476 cases and 46,839 control subjects...
May 1, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29627578/selective-alteration-of-adult-hippocampal-neurogenesis-and-impaired-spatial-pattern-separation-performance-in-the-rsk2-deficient-mouse-model-of-coffin-lowry-syndrome
#15
Charlotte Castillon, Steeve Lunion, Nathalie Desvignes, André Hanauer, Serge Laroche, Roseline Poirier
Adult neurogenesis is involved in certain hippocampus-dependent cognitive functions and is linked to psychiatric diseases including intellectual disabilities. The Coffin-Lowry syndrome (CLS) is a developmental disorder caused by mutations in the Rsk2 gene and characterized by intellectual disabilities associated with growth retardation. How RSK2-deficiency leads to cognitive dysfunctions in CLS is however poorly understood. Here, using Rsk2 Knock-Out mice, we characterized the impact of RSK2 deficiency on adult hippocampal neurogenesis in vivo...
April 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29621538/ketamine-and-ketamine-metabolites-as-novel-estrogen-receptor-ligands-induction-of-cytochrome-p450-and-ampa-glutamate-receptor-gene-expression
#16
Ming-Fen Ho, Cristina Correia, James N Ingle, Rima Kaddurah-Daouk, Liewei Wang, Scott H Kaufmann, Richard M Weinshilboum
Major depressive disorder (MDD) is the most common psychiatric illness worldwide, and it displays a striking sex-dependent difference in incidence, with two thirds of MDD patients being women. Ketamine treatment can produce rapid antidepressant effects in MDD patients, effects that are mediated-at least partially-through glutamatergic neurotransmission. Two active metabolites of ketamine, (2R,6R)-hydroxynorketamine (HNK) and (2S,6S)-HNK, also appear to play a key role in ketamine's rapid antidepressant effects through the activation of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) glutamate receptors...
April 2, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29618019/differential-expression-of-synapsin-i-and-ii-upon-treatment-by-lithium-and-valproic-acid-in-various-brain-regions
#17
Hetshree Joshi, Roohie Sharma, Shreya Prashar, Joella Ho, Sharon Thomson, Ram Mishra
Introduction: Due to the heterogeneity of psychiatric illnesses and overlapping mechanisms, patients with psychosis are differentially responsive to pharmaceutical drugs. In addition to having therapeutic effects for schizophrenia and bipolar disorder, antipsychotics and mood stabilizers have many clinical applications and are used unconventionally due to their direct and indirect effects on neurotransmitters. Synapsins, a family of neuronal phosphoproteins, play a key regulatory role in neurotransmitter release at synapses...
March 30, 2018: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29617515/development-of-white-matter-circuitry-in-infants-with-fragile-x-syndrome
#18
Meghan R Swanson, Jason J Wolff, Mark D Shen, Martin Styner, Annette Estes, Guido Gerig, Robert C McKinstry, Kelly N Botteron, Joseph Piven, Heather C Hazlett
Importance: Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder and the most common inherited cause of intellectual disability in males. However, there are no published data on brain development in children with FXS during infancy. Objective: To characterize the development of white matter at ages 6, 12, and 24 months in infants with FXS compared with that of typically developing controls. Design, Setting, and Participants: Longitudinal behavioral and brain imaging data were collected at 1 or more time points from 27 infants with FXS and 73 typically developing controls between August 1, 2008, and June 14, 2016, at 2 academic medical centers...
April 4, 2018: JAMA Psychiatry
https://www.readbyqxmd.com/read/29617356/clostridium-bacteria-and-autism-spectrum-conditions-a-systematic-review-and-hypothetical-contribution-of-environmental-glyphosate-levels
#19
REVIEW
Isadora Argou-Cardozo, Fares Zeidán-Chuliá
Nowadays, there seems to be a consensus about the multifactorial nature of autism spectrum disorders (ASD). The literature provides hypotheses dealing with numerous environmental factors and genes accounting for the apparently higher prevalence of this condition. Researchers have shown evidence regarding the impact of gut bacteria on neurological outcomes, altering behavior and potentially affecting the onset and/or severity of psychiatric disorders. Pesticides and agrotoxics are also included among this long list of ASD-related environmental stressors...
April 4, 2018: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29614680/novel-grn-mutations-in-alzheimer-s-disease-and-frontotemporal-lobar-degeneration
#20
Irene Piaceri, Daniele Imperiale, Enrico Ghidoni, Cristiana Atzori, Silvia Bagnoli, Camilla Ferrari, Silvana Ungari, Luca Ambrogio, Sandro Sorbi, Benedetta Nacmias
BACKGROUND: During the twentieth century, frontotemporal dementia (FTD) was often misdiagnosed, confused with Alzheimer's disease or psychiatric disorders, jeopardizing care and research. OBJECTIVE: To analyze the FTD genes in the DNA samples of patients belonging to families clinically classified as probable Alzheimer's disease (FAD) in the early 1990s and not carrying mutation in the three main genes linked to FAD (Presenilin 1, Presenilin 2, and Amyloid precursor protein)...
2018: Journal of Alzheimer's Disease: JAD
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