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https://www.readbyqxmd.com/read/29229843/machine-learning-shows-association-between-genetic-variability-in-pparg-and-cerebral-connectivity-in-preterm-infants
#1
Michelle L Krishnan, Zi Wang, Paul Aljabar, Gareth Ball, Ghazala Mirza, Alka Saxena, Serena J Counsell, Joseph V Hajnal, Giovanni Montana, A David Edwards
Preterm infants show abnormal structural and functional brain development, and have a high risk of long-term neurocognitive problems. The molecular and cellular mechanisms involved are poorly understood, but novel methods now make it possible to address them by examining the relationship between common genetic variability and brain endophenotype. We addressed the hypothesis that variability in the Peroxisome Proliferator Activated Receptor (PPAR) pathway would be related to brain development. We employed machine learning in an unsupervised, unbiased, combined analysis of whole-brain diffusion tractography together with genomewide, single-nucleotide polymorphism (SNP)-based genotypes from a cohort of 272 preterm infants, using Sparse Reduced Rank Regression (sRRR) and correcting for ethnicity and age at birth and imaging...
December 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29226748/epigenetic-biomarkers-current-strategies-and-future-challenges-for-their-use-in-the-clinical-laboratory
#2
José Luis García-Giménez, Marta Seco-Cervera, Trygve O Tollefsbol, Carlos Romá-Mateo, Lorena Peiró-Chova, Pablo Lapunzina, Federico V Pallardó
Epigenetic modifications and regulators represent potential molecular elements which control relevant physiological and pathological features, thereby contributing to the natural history of human disease. These epigenetic modulators can be employed as disease biomarkers, since they show several advantages and provide information about gene function, thus explaining differences among patient endophenotypes. In addition, epigenetic biomarkers can incorporate information regarding the effects of the environment and lifestyle on health and disease, and monitor the effect of applied therapies...
December 11, 2017: Critical Reviews in Clinical Laboratory Sciences
https://www.readbyqxmd.com/read/29217297/defects-in-bioenergetic-coupling-in-schizophrenia
#3
REVIEW
Courtney R Sullivan, Sinead M O'Donovan, Robert E McCullumsmith, Amy Ramsey
Synaptic neurotransmission relies on maintenance of the synapse and meeting the energy demands of neurons. Defects in excitatory and inhibitory synapses have been implicated in schizophrenia, likely contributing to positive and negative symptoms as well as impaired cognition. Recently, accumulating evidence has suggested that bioenergetic systems, important in both synaptic function and cognition, are abnormal in psychiatric illnesses such as schizophrenia. Animal models of synaptic dysfunction demonstrated endophenotypes of schizophrenia as well as bioenergetic abnormalities...
October 24, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29215094/expression-qtl-analysis-of-glaucoma-endophenotypes-in-the-norfolk-island-isolate-provides-evidence-that-immune-related-genes-are-associated-with-optic-disc-size
#4
Pik Fang Kho, Rodney A Lea, Miles C Benton, David Eccles, Larisa M Haupt, Alex W Hewitt, Justin C Sherwin, David A Mackey, Lyn R Griffiths
Primary open-angle glaucoma (POAG) is influenced by both genetic and environmental factors. Despite significant progress in identifying genetic variants associated with POAG, there remains a substantial amount of unexplained heritability. Study design features that may enhance knowledge of the genetic architecture include focusing on multiple quantitative traits related to ocular disorders (i.e. endophenotypes), targeting genetic variants that directly influence gene expression (i.e. cis-eQTLs) and utilising genetically isolated populations to reduce genetic and environmental noise and thus enhance association signals...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29214908/prospective-memory-in-first-degree-relatives-of-patients-with-schizophrenia
#5
Saima Saleem, Devvarta Kumar, Ganesan Venkatasubramanian
OBJECTIVES: Among various cognitive impairments in schizophrenia, prospective memory (ProM) deficit is unequivocally established. However, there is a paucity of research examining whether ProM impairment can be considered a cognitive endophenotypic marker in schizophrenia. An important step toward this is to assess the status of ProM in first-degree relatives (FDRs) of patients with schizophrenia. Keeping this in view, present study has been conducted to assess event- and time-based ProM in FDRs of patients with schizophrenia...
December 7, 2017: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/29202381/set-shifting-and-visuospatial-organization-deficits-in-body-dysmorphic-disorder
#6
Jennifer L Greenberg, Hilary Weingarden, Lillian Reuman, Dylan Abrams, Suraj S Mothi, Sabine Wilhelm
Individuals with body dysmorphic disorder (BDD) over-attend to perceived defect(s) in their physical appearance, often becoming "stuck" obsessing about perceived flaws and engaging in rituals to hide flaws. These symptoms suggest that individuals with BDD may experience deficits in underlying neurocognitive functions, such as set-shifting and visuospatial organization. These deficits have been implicated as risk and maintenance factors in disorders with similarities to BDD but have been minimally investigated in BDD...
November 24, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29201552/atp2c2-and-dyx1c1-are-putative-modulators-of-dyslexia-related-mmr
#7
Bent Müller, Gesa Schaadt, Johannes Boltze, Frank Emmrich, Michael A Skeide, Nicole E Neef, Indra Kraft, Jens Brauer, Angela D Friederici, Holger Kirsten, Arndt Wilcke
Background: Dyslexia is a specific learning disorder affecting reading and spelling abilities. Its prevalence is ~5% in German-speaking individuals. Although the etiology of dyslexia largely remains to be determined, comprehensive evidence supports deficient phonological processing as a major contributing factor. An important prerequisite for phonological processing is auditory discrimination and, thus, essential for acquiring reading and spelling skills. The event-related potential Mismatch Response (MMR) is an indicator for auditory discrimination capabilities with dyslexics showing an altered late component of MMR in response to auditory input...
November 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29196716/disrupted-superior-collicular-activity-may-reveal-cervical-dystonia-disease-pathomechanisms
#8
Eavan M Mc Govern, Owen Killian, Shruti Narasimham, Brendan Quinlivan, John B Butler, Rebecca Beck, Ines Beiser, Laura W Williams, Ronan P Killeen, Michael Farrell, Sean O'Riordan, Richard B Reilly, Michael Hutchinson
Cervical dystonia is a common neurological movement disorder characterised by muscle contractions causing abnormal movements and postures affecting the head and neck. The neural networks underpinning this condition are incompletely understood. While animal models suggest a role for the superior colliculus in its pathophysiology, this link has yet to be established in humans. The present experiment was designed to test the hypothesis that disrupted superior collicular processing is evident in affected patients and in relatives harbouring a disease-specific endophenotype (abnormal temporal discrimination)...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29192581/genetic-influences-on-evening-preference-overlap-with-those-for-bipolar-disorder-in-a-sample-of-mexican-americans-and-american-indians
#9
Whitney E Melroy-Greif, Ian R Gizer, Kirk C Wilhelmsen, Cindy L Ehlers
Diurnal preference (e.g., being an owl or lark) has been associated with several psychiatric disorders including bipolar disorder (BP), major depressive disorder, and substance use disorders. Previous large-scale genome-wide association studies (GWAS) aimed at identifying genetic influences on diurnal preference have exclusively included subjects of European ancestry. This study examined the genetic architecture of diurnal preference in two minority samples: a young adult sample of Mexican Americans (MAs), and a family-based sample of American Indians (AIs)...
December 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/29190129/polymorphism-rs10483727-in-the-six1-six6-gene-locus-is-a-risk-factor-for-primary-open-angle-glaucoma-in-a-saudi-cohort
#10
Altaf A Kondkar, Taif A Azad, Faisal A Almobarak, Hatem Kalantan, Tahira Sultan, Nasser A Alsabaani, Saleh A Al-Obeidan, Khaled K Abu-Amero
AIMS: Variant rs10483727 in the SIX1/SIX6 locus has been significantly associated with primary open angle glaucoma (POAG) in multiple ethnic groups. We conducted a case-control study to investigate the association between this variant and POAG in a Saudi cohort. MATERIALS AND METHODS: Polymorphism rs10483727 was genotyped by using a TaqMan® assay in 186 subjects comprising 92 unrelated POAG cases and 94 controls all of Saudi origin. RESULTS: The "C" allele frequency was 0...
November 30, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29188348/-big-data-approaches-in-psychiatry-examples-in-depression-research
#11
REVIEW
D Bzdok, T M Karrer, U Habel, F Schneider
BACKGROUND: The exploration and therapy of depression is aggravated by heterogeneous etiological mechanisms and various comorbidities. With the growing trend towards big data in psychiatry, research and therapy can increasingly target the individual patient. This novel objective requires special methods of analysis. OBJECTIVE: The possibilities and challenges of the application of big data approaches in depression are examined in closer detail. MATERIAL AND METHODS: Examples are given to illustrate the possibilities of big data approaches in depression research...
November 29, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29174946/fluoxetine-not-donepezil-reverses-anhedonia-cognitive-dysfunctions-and-hippocampal-proteome-changes-during-repeated-social-defeat-exposure
#12
M G Gottschalk, P Mortas, M Haman, S Ozcan, B Biemans, S Bahn
While anhedonia is considered a core symptom of major depressive disorder (MDD), less attention has been paid to cognitive dysfunctions. We evaluated the behavioural and molecular effects of a selective serotonin re-uptake inhibitor (SSRI, fluoxetine) and an acetylcholinesterase inhibitor (AChEI, donepezil) on emotional-cognitive endophenotypes of depression and the hippocampal proteome. A chronic social defeat (SD) procedure was followed up by "reminder" sessions of direct and indirect SD. Anhedonia-related behaviour was assessed longitudinally by intracranial self-stimulation (ICSS)...
November 23, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29167834/hypoactivation-and-dysconnectivity-of-a-frontostriatal-circuit-during-goal-directed-planning-as-an-endophenotype-for-obsessive-compulsive-disorder
#13
Matilde M Vaghi, Adam Hampshire, Naomi A Fineberg, Muzaffer Kaser, Annette B Brühl, Barbara J Sahakian, Samuel R Chamberlain, Trevor W Robbins
Background: The symptoms of obsessive-compulsive disorder (OCD) have been postulated to result from impaired executive functioning and excessive habit formation at the expense of goal-directed control and have been objectively demonstrated using neuropsychological tests in such patients. This study tested whether there is functional hypoactivation as well as dysconnectivity of discrete frontostriatal pathways during goal-directed planning in patients with OCD and in their unaffected first-degree relatives...
November 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29166674/unpredictable-chronic-mild-stress-differentially-impairs-social-and-contextual-discrimination-learning-in-two-inbred-mouse-strains
#14
Michiel van Boxelaere, Jason Clements, Patrick Callaerts, Rudi D'Hooge, Zsuzsanna Callaerts-Vegh
Alterations in the social and cognitive domain are considered important indicators for increased disability in many stress-related disorders. Similar impairments have been observed in rodents chronically exposed to stress, mimicking potential endophenotypes of stress-related psychopathologies such as major depression disorder (MDD), anxiety, conduct disorder, and posttraumatic stress disorder (PTSD). Data from numerous studies suggest that deficient plasticity mechanisms in hippocampus (HC) and prefrontal cortex (PFC) might underlie these social and cognitive deficits...
2017: PloS One
https://www.readbyqxmd.com/read/29156223/exploring-apoe-genotype-effects-on-ad-risk-and-%C3%AE-amyloid-burden-in-individuals-with-subjective-cognitive-decline-the-facehbi-study-baseline-results
#15
Sonia Moreno-Grau, O Rodríguez-Gomez, A Sanabria, A Perez-Cordon, D Sanchez-Ruiz, C Abdelnour, S Valero, I Hernandez, M Rosende-Roca, A Mauleon, L Vargas, A Lafuente, S Gil, M A Santos-Santos, M Alegret, A Espinosa, G Ortega, M Guitart, A Gailhajanet, I de Rojas, O Sotolongo-Grau, S Ruiz, N Aguilera, J Papasey, E Martin, E Peleja, F Lomeña, F Campos, A Vivas, M Gomez-Chiari, M A Tejero, J Giménez, M Serrano-Ríos, A Orellana, L Tarraga, A Ruiz, M Boada
INTRODUCTION: Subjective cognitive decline (SCD) has been proposed as a potential preclinical stage of Alzheimer's disease (AD). Nevertheless, the genetic and biomarker profiles of SCD individuals remain mostly unexplored. METHODS: We evaluated apolipoprotein E (APOE) Ɛ4's effect in the risk of presenting SCD, using the Fundacio ACE Healthy Brain Initiative (FACEHBI) SCD cohort and Spanish controls, and performed a meta-analysis addressing the same question. We assessed the relationship between APOE dosage and brain amyloid burden in the FACEHBI SCD and Alzheimer's Disease Neuroimaging Initiative cohorts...
November 17, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29154156/delta-beta-correlation-as-a-candidate-endophenotype-of-social-anxiety-a-two-generation-family-study
#16
Anita Harrewijn, Melle J W van der Molen, Irene M van Vliet, Jeanine J Houwing-Duistermaat, P Michiel Westenberg
BACKGROUND: Social anxiety disorder (SAD) is characterized by an extreme and intense fear and avoidance of social situations. In this two-generation family study we examined delta-beta correlation during a social performance task as candidate endophenotype of SAD. METHODS: Nine families with a target participant (diagnosed with SAD), their spouse and children, as well as target's siblings with spouse and children performed a social performance task in which they gave a speech in front of a camera...
November 10, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29146048/cerebellar-volume-in-autism-literature-meta-analysis-and-analysis-of-the-autism-brain%C3%A2-imaging-data-exchange-cohort
#17
Nicolas Traut, Anita Beggiato, Thomas Bourgeron, Richard Delorme, Laure Rondi-Reig, Anne-Lise Paradis, Roberto Toro
BACKGROUND: The neuroanatomical bases of autism spectrum disorder remain largely unknown. Among the most widely discussed candidate endophenotypes, differences in cerebellar volume have been often reported as statistically significant. METHODS: We aimed at objectifying this possible alteration by performing a systematic meta-analysis of the literature and an analysis of the ABIDE (Autism Brain Imaging Data Exchange) cohort. Our meta-analysis sought to determine a combined effect size of autism spectrum disorder diagnosis on different measures of the cerebellar anatomy as well as the effect of possible factors of variability across studies...
October 10, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29145734/two-dopaminergic-genes-drd4-and-slc6a3-are-associated-with-body-mass-index-in-a-colombian-sample-of-young-adults
#18
Yeimy González-Giraldo, Martha L Trujillo, Diego A Forero
Obesity is becoming an epidemic in Latin American countries. Genetic analyses of endophenotypes for obesity, such as body mass index (BMI), are quite useful for research. In this study, we analysed two functional polymorphisms in the dopamine receptor 4 (DRD4) and dopamine transporter (SLC6A3) genes. A sample of 232 Colombian young subjects were recruited and evaluated for BMI. Two functional polymorphisms in the DRD4 and SLC6A3 and genes were genotyped by PCR and electrophoresis. A significant association was found between BMI and the polymorphisms in DRD4 and SLC6A3 genes...
November 16, 2017: Archives of Physiology and Biochemistry
https://www.readbyqxmd.com/read/29126394/prospective-study-of-autism-phenomenology-and-the-behavioural-phenotype-of-phelan-mcdermid-syndrome-comparison-to-fragile-x-syndrome-down-syndrome-and-idiopathic-autism-spectrum-disorder
#19
Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson, Christopher Oliver
BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS...
November 10, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29120948/parvalbumin-containing-gaba-cells-and-schizophrenia-experimental-model-based-on-targeted-gene-delivery-through-adeno-associated-viruses
#20
Marta U Woloszynowska-Fraser, Peer Wulff, Gernot Riedel
Understanding the contribution of transmitter systems in behavioural pharmacology has a long tradition. Multiple techniques such as transmitter-specific lesions, and also localized administration of pharmacological toxins including agonists and antagonists of selected receptors have been applied. More recently, modern genetic tools have permitted cell-type selective interferences, for example by expression of light-sensitive channels followed by optogenetic stimulation in behaviourally meaningful settings or by engineered channels termed DREADDS that respond to peripherally administered drugs...
December 2017: Behavioural Pharmacology
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