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Alex Ferrer, Javier Costas, Javier Labad, Neus Salvat-Pujol, Cinto Segalàs, Mikel Urretavizcaya, Eva Real, Aida de Arriba-Arnau, Pino Alonso, José M Crespo, Marta Barrachina, Carles Soriano-Mas, Ángel Carracedo, José M Menchón, Virginia Soria
Major depressive disorder (MDD) and obsessive-compulsive disorder (OCD) have both been linked to abnormalities in the hypothalamic-pituitary-adrenal (HPA) axis. Polymorphisms in the genes involved in HPA axis activity, such as FKBP5, and their interactions with childhood trauma have been associated with stress-related mental disorders. Our goal was to study the role of FKBP5 genetic variants in HPA axis negative feedback regulation as a possible risk factor for different mental disorders such as MDD and OCD, while controlling for childhood trauma, anxiety and depressive symptoms...
August 9, 2018: Journal of Psychiatric Research
Steven D Hicks, Richard Uhlig, Parisa Afshari, Jeremy Williams, Maria Chroneos, Cheryl Tierney-Aves, Kayla Wagner, Frank A Middleton
Autism spectrum disorder (ASD) is associated with several oropharyngeal abnormalities, including buccal sensory sensitivity, taste and texture aversions, speech apraxia, and salivary transcriptome alterations. Furthermore, the oropharynx represents the sole entry point to the gastrointestinal (GI) tract. GI disturbances and alterations in the GI microbiome are established features of ASD, and may impact behavior through the "microbial-gut-brain axis." Most studies of the ASD microbiome have used fecal samples...
August 14, 2018: Autism Research: Official Journal of the International Society for Autism Research
Eisuke Sakakibara, Ryu Takizawa, Yuki Kawakubo, Hitoshi Kuwabara, Toshiaki Kono, Kasumi Hamada, Shiho Okuhata, Satoshi Eguchi, Ayaka Ishii-Takahashi, Kiyoto Kasai
OBJECTIVE: The genetic and environmental influences on prefrontal function in childhood are underinvestigated due to the difficulty of measuring prefrontal function in young subjects, for which near-infrared spectroscopy (NIRS) is a suitable functional neuroimaging technique that facilitates the easy and noninvasive measurement of blood oxygenation in the superficial cerebral cortices. METHOD: Using a two-channel NIRS arrangement, we measured changes in bilateral prefrontal blood oxygenation during a category version of the verbal fluency task (VFT) in 27 monozygotic twin pairs and 12 same-sex dizygotic twin pairs ages 5-17 years...
June 2018: Brain and Behavior
Yu-Han Chen, Breannan Howell, J Christopher Edgar, Mingxiong Huang, Peter Kochunov, Michael A Hunter, Cassandra Wootton, Brett Y Lu, Juan Bustillo, Joseph R Sadek, Gregory A Miller, José M Cañive
Background: Auditory encoding abnormalities, gray-matter loss, and cognitive deficits are all candidate schizophrenia (SZ) endophenotypes. This study evaluated associations between and heritability of auditory network attributes (function and structure) and attention in healthy controls (HC), SZ patients, and unaffected relatives (UR). Methods: Whole-brain maps of M100 auditory activity from magnetoencephalography recordings, cortical thickness (CT), and a measure of attention were obtained from 70 HC, 69 SZ patients, and 35 UR...
August 7, 2018: Schizophrenia Bulletin
Chao Wang, Binrang Yang, Diangang Fang, Hongwu Zeng, Xiaowen Chen, Gang Peng, Qiuying Cheng, Guohua Liang
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopment disorder. The deficit in working memory is a central cognitive impairment in ADHD. The SNAP-25 is a neurotransmitter vesicular docking protein whose MnlI polymorphism (rs3746544) is located in the 3'-untranslated region (3'-UTR) and known to be linked to ADHD, but the underlying mechanism of this polymorphism remains unclear. Using a functional connectivity density (FCD) mapping method based on resting-state functional magnetic resonance imaging in a sample of male children diagnosed with ADHD, we first investigated the correlation between SNAP-25 rs3746544 and FCD hubs...
August 6, 2018: Biological Psychology
Beatrix Barth, Kerstin Mayer-Carius, Ute Strehl, Augustin Kelava, Florian Benedikt Häußinger, Andreas Jochen Fallgatter, Ann-Christine Ehlis
AIM: Findings on neurophysiological alterations in attention-deficit/hyperactivity disorder (ADHD) have been proposed to underlie ADHD symptoms, with different etiological pathways for different patient biotypes. We aimed at determining whether neurophysiological deviations confirm distinct neurophysiological profiles in ADHD, thus providing direct evidence for the endophenotype concept. METHODS: Neurophysiological biotypes were investigated in 87 adult patients with ADHD using cluster analysis...
August 7, 2018: Psychiatry and Clinical Neurosciences
Martin R Wilkins, Jurjan Aman, Lars Harbaum, Anna Ulrich, John Wharton, Christopher J Rhodes
Pulmonary arterial hypertension (PAH) is a rare disorder with a high mortality rate. Treatment options have improved in the last 20 years, but patients still die prematurely of right heart failure. Though rare, it is heterogeneous at the genetic and molecular level, and understanding and exploiting this is key to the development of more effective treatments. BMPR2 , encoding bone morphogenetic receptor type 2, is the most commonly affected gene in both familial and non-familial PAH, but rare mutations have been identified in other genes...
2018: F1000Research
Stephen Tisch
Within the field of movement disorders, the conceptual understanding of dystonia has continued to evolve. Clinical advances have included improvements in recognition of certain features of dystonia, such as tremor, and understanding of phenotypic spectrums in the genetic dystonias and dystonia terminology and classification. Progress has also been made in the understanding of underlying biological processes which characterize dystonia from discoveries using approaches such as neurophysiology, functional imaging, genetics, and animal models...
2018: F1000Research
Luca Onnis, Anna Truzzi, Xiaomeng Ma
Language development requires both basic cognitive mechanisms for learning language and a rich social context from which learning takes off. Disruptions in learning mechanisms, processing abilities, and/or social interactions increase the risks associated with social exclusion or developmental delays. Given the complexity of language processes, a multilevel approach is proposed where both cognitive mechanisms, genetic and environmental factors need to be probed together with their possible interactions. Here we review and discuss such interplay between environment and genetic predispositions in understanding language disorders, with a particular focus on a possible endophenotype, the ability for statistical sequential learning...
August 1, 2018: Research in Developmental Disabilities
Vincenzo G Fiore, Dimitri Ognibene, Bryon Adinoff, Xiaosi Gu
Addiction is characterized by a profound intersubject (phenotypic) variability in the expression of addictive symptomatology and propensity to relapse following treatment. However, laboratory investigations have primarily focused on common neural substrates in addiction and have not yet been able to identify mechanisms that can account for the multifaceted phenotypic behaviors reported in the literature. To fill this knowledge gap theoretically, here we simulated phenotypic variations in addiction symptomology and responses to putative treatments, using both a neural model, based on cortico-striatal circuit dynamics, and an algorithmic model of reinforcement learning (RL)...
July 2018: ENeuro
Grace S Kim, Alicia K Smith, Caroline M Nievergelt, Monica Uddin
While diagnosis of PTSD is based on behavioral symptom clusters that are most directly associated with brain function, epigenetic studies of PTSD in humans to date have been limited to peripheral tissues. Animal models of PTSD have been key for understanding the epigenetic alterations in the brain most directly relevant to endophenotypes of PTSD, in particular those pertaining to fear memory and stress response. This chapter provides an overview of neuroepigenetic studies based on animal models of PTSD, with an emphasis on the effect of stress on fear memory...
2018: Progress in Molecular Biology and Translational Science
Carla Nasca, Benedetta Bigio, Francis S Lee, Sarah P Young, Marin M Kautz, Ashly Albright, James Beasley, David S Millington, Aleksander A Mathé, James H Kocsis, James W Murrough, Bruce S McEwen, Natalie Rasgon
The lack of biomarkers to identify target populations greatly limits the promise of precision medicine for major depressive disorder (MDD), a primary cause of ill health and disability. The endogenously produced molecule acetyl-l-carnitine (LAC) is critical for hippocampal function and several behavioral domains. In rodents with depressive-like traits, LAC levels are markedly decreased and signal abnormal hippocampal glutamatergic function and dendritic plasticity. LAC supplementation induces rapid and lasting antidepressant-like effects via epigenetic mechanisms of histone acetylation...
July 30, 2018: Proceedings of the National Academy of Sciences of the United States of America
Zsolt Rónai, Zoltán Lippai, Zsuzsanna Elek, Anikó Somogyi
Although the Human Genome Project discovered the sequence of the human genetic information 15 years ago, genetic background of the diseases - primarily that of complex disorders - is still not known. The sum of the not yet discovered inherited risk factors is termed the missing heritability; the identification of these genetic components is, however, essential, as it is the base of the understanding of the molecular pathomechanism of diseases. It is not only of theoretical importance: this knowledge can be used in the clinical practice, as it offers the possibility of improvement of diagnostics, prevention as well as targeted and individualized therapy...
August 2018: Orvosi Hetilap
Natali S Bozhilova, Giorgia Michelini, Jonna Kuntsi, Philip Asherson
Attention-Deficit/Hyperactivity Disorder (ADHD) is a common neurodevelopmental disorder associated with a range of mental health, neurocognitive and functional problems. Although the diagnosis is based on descriptions of behaviour, individuals with ADHD characteristically describe excessive spontaneous mind wandering (MW). MW in individuals with ADHD reflects constant mental activity which lacks topic stability and content consistency. Based on this review of the neural correlates of ADHD and MW, we outline a new perspective on ADHD: the MW hypothesis...
September 2018: Neuroscience and Biobehavioral Reviews
Quinn McLellan, T Christopher Wilkes, Rose Swansburg, Natalia Jaworska, Lisa Marie Langevin, Frank P MacMaster
BACKGROUND: Growing evidence suggests an endophenotype for suicidality, including brain morphometric features, could provide an improved platform for suicide risk assessment. Reduced right superior temporal gyrus (rSTG) volumes have been implicated in suicidality across psychiatric disorders. Treatment-resistant depression (TRD) has unique neurobiology and adolescents with TRD are at increased suicide risk. Here, we investigated whether reduced rSTG volume was present in adolescents with TRD and history of suicide attempt...
July 12, 2018: Journal of Affective Disorders
L Ukkola-Vuoti, M Torniainen-Holm, A Ortega-Alonso, V Sinha, A Tuulio-Henriksson, T Paunio, J Lönnqvist, J Suvisaari, W Hennah
Schizophrenia is a heterogeneous disorder characterized by a spectrum of symptoms and many different underlying causes. Thus, instead of using the broad diagnosis, intermediate phenotypes can be used to possibly decrease the underlying complexity of the disorder. Alongside the classical symptoms of delusions and hallucinations, cognitive deficits are a core feature of schizophrenia. To increase our understanding of the biological processes related to these cognitive deficits, we performed a genome-wide gene expression analysis...
July 18, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
Li-Lin Rao, Yuan Zhou, Dang Zheng, Liu-Qing Yang, Shu Li
Excessive risk-taking behaviors have been implicated as a potential endophenotype for substance use disorders and psychopathological gambling. However, the genetic and environmental influences on risk taking and the risk-related brain activations remain unclear. This study investigated the heritability of risk taking and the genetic influence on individual variation in risk-related brain activation. The Balloon Analogue Risk Task was used to assess individuals' risk-taking behavior. In a sample of 244 pairs of young adult twins, we found that there was a moderate heritability (41%) of risk taking...
July 1, 2018: Psychological Science
Danielle M Dick
One of Irving I. Gottesman's many contributions to behavior genetics, and part of his enduring legacy, was his introduction of the term 'endophenotype' to the field of psychiatry. Gottesman argued that focusing on endophenotypes, rather than complex heterogeneous clinical diagnoses, could help elucidate disease etiology. Although a different strategy for gene identification ultimately proved successful (that of amassing extremely large sample sizes in order to overcome the 'noise' of heterogeneity and have sufficient power to find genes of very small effect), the endophenotype concept continues to make a meaningful contribution to the field...
August 2018: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Kirsten E Gilbert, Margot E Barclay, Rebecca Tillman, Deanna M Barch, Joan L Luby
Importance: Monitoring one's performance is necessary for learning and adaptive behavior; however, heightened performance monitoring is a purported endophenotype of obsessive-compulsive disorder (OCD). The anterior cingulate cortex (ACC), a brain region implicated in the pathogenesis of OCD, is associated with performance monitoring. Whether performance monitoring early in development is an identifiable risk factor for OCD and whether early childhood performance monitoring is associated with later alterations in ACC volume are unknown...
July 18, 2018: JAMA Psychiatry
Richard B Lipton, Kristina M Fanning, Dawn C Buse, Vincent T Martin, Michael L Reed, Aubrey Manack Adams, Peter J Goadsby
OBJECTIVE: To identify natural subgroups of people with migraine based on profiles of comorbidities and concomitant conditions, hereafter referred to as comorbidities. BACKGROUND: Migraine is a heterogeneous disease. Identifying natural subgroups (endophenotypes) may facilitate biological and genetic characterization and the development of personalized treatment. METHODS: The Chronic Migraine Epidemiology and Outcomes Study is a prospective web-based survey study designed to characterize the course of migraine and related comorbidities in a systematic US sample of people with migraine...
July 19, 2018: Headache
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