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Genetic psychiatry

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https://www.readbyqxmd.com/read/28524462/editorial-perspective-neurodiversity-a-revolutionary-concept-for-autism-and-psychiatry
#1
EDITORIAL
Simon Baron-Cohen
Should we continue to refer to autism as a 'disease' or 'disorder', or is the framework of 'neurodiversity' a more humane and accurate lens through which to view people with autism? Evidence at the genetic, neural, behavioural and cognitive levels reveals people with autism show both differences, and signs of disability, but not disorder. Disability requires societal support, acceptance of difference and diversity, and societal "reasonable adjustment", whilst disorder is usually taken to require cure or treatment...
June 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28507321/pet-imaging-of-dopamine-d2-receptor-internalization-in-schizophrenia
#2
J J Weinstein, E van de Giessen, R J Rosengard, X Xu, N Ojeil, G Brucato, R B Gil, L S Kegeles, M Laruelle, M Slifstein, A Abi-Dargham
Recent genetic, molecular and post-mortem studies suggest impaired dopamine (DA)-D2 receptor (D2R) trafficking in patients with schizophrenia (SZ). Imaging and preclinical studies have shown agonist-induced D2R internalization can be imaged with positron emission tomography (PET) using D2R radiotracers combined with psychostimulant challenge. This is feasible if radiotracer binding is measured when postchallenge DA levels have returned to baseline, following the initial competition phase between DA and radiotracer for binding to D2R...
May 16, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28507316/autism-spectrum-disorders-and-autistic-traits-share-genetics-and-biology
#3
J Bralten, K J van Hulzen, M B Martens, T E Galesloot, A Arias Vasquez, L A Kiemeney, J K Buitelaar, J W Muntjewerff, B Franke, G Poelmans
Autism spectrum disorders (ASDs) and autistic traits in the general population may share genetic susceptibility factors. In this study, we investigated such potential overlap based on common genetic variants. We developed and validated a self-report questionnaire of autistic traits in adults. We then conducted genome-wide association studies (GWASs) of six trait scores derived from the questionnaire through exploratory factor analysis in 1981 adults from the general population. Using the results from the Psychiatric Genomics Consortium GWAS of ASDs, we observed genetic sharing between ASDs and the autistic traits 'childhood behavior', 'rigidity' and 'attention to detail'...
May 16, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28498595/etiology-in-psychiatry-embracing-the-reality-of-poly-gene-environmental-causation-of-mental-illness
#4
Rudolf Uher, Alyson Zwicker
Intriguing findings on genetic and environmental causation suggest a need to reframe the etiology of mental disorders. Molecular genetics shows that thousands of common and rare genetic variants contribute to mental illness. Epidemiological studies have identified dozens of environmental exposures that are associated with psychopathology. The effect of environment is likely conditional on genetic factors, resulting in gene-environment interactions. The impact of environmental factors also depends on previous exposures, resulting in environment-environment interactions...
June 2017: World Psychiatry: Official Journal of the World Psychiatric Association (WPA)
https://www.readbyqxmd.com/read/28497736/-implication-of-human-endogenous-retroviruses-in-schizophrenia-and-bipolar-disorder
#5
Pierre Ellul, Laurent Groc, Marion Leboyer
Schizophrenia and bipolar disorder are neuropsychiatric disorders of unknown origin. It seems that these two disorders share some common etiopathogenic mechanisms including genetic, environmental and inflammatory ones. Reactivation of the human endogenous retrovirus type W (HERV-W) can be a shared element in the pathophysiology of schizophrenia and bipolar disorder, linked to immuno-genetic and environment risk factors. We will present studies that have highlighted the presence of HERV-W in schizophrenic and bipolar disorder patients...
April 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/28496375/revisiting-the-etiological-aspects-of-dissociative-identity-disorder-a-biopsychosocial-perspective
#6
REVIEW
Vedat Şar, Martin J Dorahy, Christa Krüger
Dissociative identity disorder (DID) is a chronic post-traumatic disorder where developmentally stressful events in childhood, including abuse, emotional neglect, disturbed attachment, and boundary violations are central and typical etiological factors. Familial, societal, and cultural factors may give rise to the trauma and/or they may influence the expression of DID. Memory and the construction of self-identity are cognitive processes that appear markedly and centrally disrupted in DID and are related to its etiology...
2017: Psychology Research and Behavior Management
https://www.readbyqxmd.com/read/28485408/genetic-and-pharmacological-antagonism-of-nk1-receptor-prevents-opiate-abuse-potential
#7
A J Sandweiss, M I McIntosh, A Moutal, R Davidson-Knapp, J Hu, A K Giri, T Yamamoto, V J Hruby, R Khanna, T M Largent-Milnes, T W Vanderah
Development of an efficacious, non-addicting analgesic has been challenging. Discovery of novel mechanisms underlying addiction may present a solution. Here we target the neurokinin system, which is involved in both pain and addiction. Morphine exerts its rewarding actions, at least in part, by inhibiting GABAergic input onto substance P (SP) neurons in the ventral tegmental area (VTA), subsequently increasing SP release onto dopaminergic neurons. Genome editing of the neurokinin 1 receptor (NK1R) in the VTA renders morphine non-rewarding...
May 9, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28485405/investigating-the-neuroimmunogenic-architecture-of-schizophrenia
#8
R Birnbaum, A E Jaffe, Q Chen, J H Shin, J E Kleinman, T M Hyde, D R Weinberger
The role of the immune system in schizophrenia remains controversial despite numerous studies to date. Most studies have profiled expression of select genes or proteins in peripheral blood, but none have focused on the expression of canonical pathways that mediate overall immune response. The current study used a systematic genetic approach to investigate the role of the immune system in a large sample of post-mortem brain of patients with schizophrenia: RNA sequencing was performed to assess the differential expression of 561 immune genes and 20 immune pathways in dorsolateral prefrontal cortex (DLPFC) (144 schizophrenia and 196 control subjects) and hippocampus (83 schizophrenia and 187 control subjects)...
May 9, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28485404/genetic-contributors-to-variation-in-alcohol-consumption-vary-by-race-ethnicity-in-a-large-multi-ethnic-genome-wide-association-study
#9
E Jorgenson, K K Thai, T J Hoffmann, L C Sakoda, M N Kvale, Y Banda, C Schaefer, N Risch, J Mertens, C Weisner, H Choquet
Alcohol consumption is a complex trait determined by both genetic and environmental factors, and is correlated with the risk of alcohol use disorders. Although a small number of genetic loci have been reported to be associated with variation in alcohol consumption, genetic factors are estimated to explain about half of the variance in alcohol consumption, suggesting that additional loci remain to be discovered. We conducted a genome-wide association study (GWAS) of alcohol consumption in the large Genetic Epidemiology Research in Adult Health and Aging (GERA) cohort, in four race/ethnicity groups: non-Hispanic whites, Hispanic/Latinos, East Asians and African Americans...
May 9, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28485403/gad1-alternative-transcripts-and-dna-methylation-in-human-prefrontal-cortex-and-hippocampus-in-brain-development-schizophrenia
#10
R Tao, K N Davis, C Li, J H Shin, Y Gao, A E Jaffe, M C Gondré-Lewis, D R Weinberger, J E Kleinman, T M Hyde
Genetic variations and adverse environmental events in utero or shortly after birth can lead to abnormal brain development and increased risk of schizophrenia. γ-Aminobutyric acid (GABA), the major inhibitory neurotransmitter in the mammalian brain, plays a vital role in normal brain development. GABA synthesis is controlled by enzymes derived from two glutamic acid decarboxylase (GAD) genes, GAD1 and GAD2, both of which produce transcript isoforms. While the full-length GAD1 transcript (GAD67) has been implicated in the neuropathology of schizophrenia, the transcript structure of GAD1 in the human brain has not been fully characterized...
May 9, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28480819/should-a-routine-genotyping-of-cyp2d6-and-cyp2c19-genetic-polymorphisms-be-recommended-to-predict-venlafaxine-efficacy-in-depressed-patients-treated-in-psychiatric-settings
#11
Adela Taranu, Romain Colle, Florence Gressier, Khalil El Asmar, Laurent Becquemont, Emmanuelle Corruble, Céline Verstuyft
AIM: The antidepressant venlafaxine (VEN) is metabolized by CYP2D6 and CYP2C19. The aim of this study was to assess the relevance of generalizing to daily practice the genotyping of CYP2D6 and CYP2C19 to predict VEN efficacy in depressed patients treated in psychiatric settings. PATIENTS & METHODS: This study was nested in a naturalistic cohort, with 206 patients requiring a new antidepressant treatment and genotyped for CYP2D6 *3, *4, *5 del, *6, *2xN, *10, *41 and CYP2C19 *2, *3, *4, *5, *17 alleles...
May 8, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28461701/activation-of-a-novel-p70-s6-kinase-1-dependent-intracellular-cascade-in-the-basolateral-nucleus-of-the-amygdala-is-required-for-the-acquisition-of-extinction-memory
#12
T N Huynh, E Santini, E Mojica, A E Fink, B S Hall, R N Fetcho, L Grosenick, K Deisseroth, J E LeDoux, C Liston, E Klann
Repeated presentations of a previously conditioned stimulus lead to a new form of learning known as extinction, which temporarily alters the response to the original stimulus. Previous studies have shown that the consolidation of extinction memory requires de novo protein synthesis. However, the role of specific nodes of translational control in extinction is unknown. Using auditory threat conditioning in mice, we investigated the role of mechanistic target of rapamycin complex 1 (mTORC1) and its effector p70 S6 kinase 1 (S6K1) in the extinction of auditory threat conditioning...
May 2, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28461698/genetic-risk-for-schizophrenia-and-psychosis-in-alzheimer-disease
#13
M A A DeMichele-Sweet, E A Weamer, L Klei, D T Vrana, D J Hollingshead, H J Seltman, R Sims, T Foroud, I Hernandez, S Moreno-Grau, L Tárraga, M Boada, A Ruiz, J Williams, R Mayeux, O L Lopez, E L Sibille, M I Kamboh, B Devlin, R A Sweet
Psychotic symptoms, defined as the occurrence of delusions or hallucinations, are frequent in Alzheimer disease (AD), affecting ~40 to 60% of individuals with AD (AD with psychosis (AD+P)). In comparison with AD subjects without psychosis, AD+P subjects have more rapid cognitive decline and poor outcomes. Prior studies have estimated the heritability of psychosis in AD at 61%, but the underlying genetic sources of this risk are not known. We evaluated a Discovery Cohort of 2876 AD subjects with (N=1761) or without psychosis (N=1115)...
May 2, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28457162/swedish-register-analysis-of-divorce-and-alcohol-use-disorder-highlights-social-relationships-as-a-target-for-preventive-psychiatry-and-genetic-research
#14
Leah S Richmond-Rakerd, Daniel W Belsky
No abstract text is available yet for this article.
May 1, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/28445399/advances-in-psychiatric-diagnosis-past-present-and-future
#15
EDITORIAL
Carol S North, Alina M Surís
This editorial examines controversies identified by the articles in this special issue, which explore psychopathology in the broad history of the classification of selected psychiatric disorders and syndromes over time through current American criteria. Psychiatric diagnosis has a long history of scientific investigation and application, with periods of rapid change, instability, and heated controversy associated with it. The articles in this issue examine the history of psychiatric nomenclature and explore current and future directions in psychiatric diagnosis through the various versions of accepted diagnostic criteria and accompanying research literature addressing the criteria...
April 26, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/28442912/tumor-necrosis-factor-%C3%AE-and-%C3%AE-genetic-polymorphisms-as-a-risk-factor-in-saudi-patients-with-schizophrenia
#16
Saeed Kadasah, Misbahul Arfin, Sadaf Rizvi, Mohammed Al-Asmari, Abdulrahman Al-Asmari
BACKGROUND: Schizophrenia is one of the most common devastating psychiatric disorders that negatively affects the quality of life and psychosocial functions. Its etiology involves the interplay of complex polygenic influences and environmental risk factors. Inflammatory markers are well-known etiological factors for psychiatric disorders, including schizophrenia. OBJECTIVE: The aim of this study was to investigate the association of proinflammatory cytokine genes, tumor necrosis factor (TNF)-α (-308G/A) and TNF-β (+252A/G) polymorphisms with schizophrenia susceptibility...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28439101/largest-gwas-of-ptsd-n-20%C3%A2-070-yields-genetic-overlap-with-schizophrenia-and-sex-differences-in-heritability
#17
L E Duncan, A Ratanatharathorn, A E Aiello, L M Almli, A B Amstadter, A E Ashley-Koch, D G Baker, J C Beckham, L J Bierut, J Bisson, B Bradley, C-Y Chen, S Dalvie, L A Farrer, S Galea, M E Garrett, J E Gelernter, G Guffanti, M A Hauser, E O Johnson, R C Kessler, N A Kimbrel, A King, N Koen, H R Kranzler, M W Logue, A X Maihofer, A R Martin, M W Miller, R A Morey, N R Nugent, J P Rice, S Ripke, A L Roberts, N L Saccone, J W Smoller, D J Stein, M B Stein, J A Sumner, M Uddin, R J Ursano, D E Wildman, R Yehuda, H Zhao, M J Daly, I Liberzon, K J Ressler, C M Nievergelt, K C Koenen
The Psychiatric Genomics Consortium-Posttraumatic Stress Disorder group (PGC-PTSD) combined genome-wide case-control molecular genetic data across 11 multiethnic studies to quantify PTSD heritability, to examine potential shared genetic risk with schizophrenia, bipolar disorder, and major depressive disorder and to identify risk loci for PTSD. Examining 20 730 individuals, we report a molecular genetics-based heritability estimate (h(2)SNP) for European-American females of 29% that is similar to h(2)SNP for schizophrenia and is substantially higher than h(2)SNP in European-American males (estimate not distinguishable from zero)...
April 25, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28439100/ventral-striatal-regulation-of-crem-mediates-impulsive-action-and-drug-addiction-vulnerability
#18
M L Miller, Y Ren, H Szutorisz, N A Warren, C Tessereau, G Egervari, A Mlodnicka, M Kapoor, B Chaarani, C V Morris, G Schumann, H Garavan, A M Goate, M J Bannon, J M Halperin, Y L Hurd
Impulsivity, a multifaceted behavioral hallmark of attention-deficit/hyperactivity disorder (ADHD), strongly influences addiction vulnerability and other psychiatric disorders that incur enormous medical and societal burdens yet the neurobiological underpinnings linking impulsivity to disease remain poorly understood. Here we report the critical role of ventral striatal cAMP-response element modulator (CREM) in mediating impulsivity relevant to drug abuse vulnerability. Using an ADHD rat model, we demonstrate that impulsive animals are neurochemically and behaviorally more sensitive to heroin and exhibit reduced Crem expression in the nucleus accumbens core...
April 25, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28423808/security-policy-and-infrastructure-in-the-context-of-a-multi-centeric-information-system-dedicated-to-autism-spectrum-disorder
#19
Mohamed Ben Said, Laurence Robel, Bernard Golse, Jean Philippe Jais
Autism spectrum disorders (ASD) are complex neuro-developmental disorders affecting children in their early age. The diagnosis of ASD relies on multidisciplinary investigations, in psychiatry, neurology, genetics, electrophysiology, neuro-imagery, audiology and ophthalmology. In order to support clinicians, researchers and public health decision makers, we designed an information system dedicated to ASD, called TEDIS. TEDIS was designed to manage systematic, exhaustive and continuous multi-centric patient data collection via secured Internet connections...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28417336/treatment-of-depression-in-adults-with-fabry-disease
#20
Nadia Ali, Scott Gillespie, Dawn Laney
Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic...
April 18, 2017: JIMD Reports
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