Endophenotypes

Publication Title: 
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences

BACKGROUND: Identification of gene variants that contribute to exceptional survival may provide critical biologic information that informs optimal health across the life span. METHODS: As part of phenotype development efforts for the Long Life Family Study, endophenotypes that represent exceptional survival were identified and heritability estimates were calculated. Principal components (PCs) analysis was carried out using 28 physiologic measurements from five trait domains (cardiovascular, cognition, physical function, pulmonary, and metabolic).

Author(s): 
Matteini, Amy M.
Fallin, M. Daniele
Kammerer, Candace M.
Schupf, Nicole
Yashin, Anatoli I.
Christensen, Kaare
Arbeev, Konstantin G.
Barr, Graham
Mayeux, Richard
Newman, Anne B.
Walston, Jeremy D.
Publication Title: 
Hormones and Behavior

Imprinted genes, which are thought to comprise <1% of the mammalian genome, are defined by their parent-of-origin specific monoallelic expression arising as a consequence of differential epigenetic marking of alleles in the paternal and maternal germlines. Such genes are highly represented in the brain and placental transcriptomes, and have been shown to exert significant influence on fundamental developmental processes in these organs. Converging evidence from work in man and animal models has shown that imprinted genes can influence a variety of brain and behavioral endophenotypes.

Author(s): 
Kopsida, Eleni
Mikaelsson, Mikael A.
Davies, William
Publication Title: 
Translational Psychiatry

Vulnerability to suicidal behavior (SB) is likely mediated by an underlying genetic predisposition interacting with environmental and probable epigenetic factors throughout the lifespan to modify the function of neuronal circuits, thus rendering an individual more likely to engage in a suicidal act. Improving our understanding of the neuroscience underlying SBs, both attempts and completions, at all developmental stages is crucial for more effective preventive treatments and for better identification of vulnerable individuals.

Author(s): 
Courtet, P.
Gottesman, I. I.
Jollant, F.
Gould, T. D.
Publication Title: 
Psychiatria Danubina

BACKGROUND: Previous research has shown that metabolic syndrome as well as early life stress can account for immunoactivation (e.g. in the form of altered fibrinogen levels) in patients with major depression. This study aims at assessing the relationship between components of metabolic syndrome, early life stress and fibrinogen levels, taking the severity of depression into consideration. SUBJECTS AND METHODS: Measures of early life stress and signs of metabolic syndrome were collected in 58 adult inpatients diagnosed with depression.

Author(s): 
Zeugmann, Sara
Quante, Arnim
Popova-Zeugmann, Louchka
Kˆssler, Wolfgang
Heuser, Isabella
Anghelescu, Ion
Publication Title: 
JAMA neurology

We are at an inflection point in our study of the human genome as it relates to neurodegenerative disease. The sequencing of the human genome, and its associated cataloging of human genetic variation and technological as well as methodological development, introduced a period of rapid gene discovery over the past decade. These efforts have yielded many new insights and will continue to uncover the genetic architecture of syndromically defined neurodegenerative diseases in the coming decades.

Author(s): 
De Jager, Philip L.
Bennett, David A.
Publication Title: 
European Neuropsychopharmacology: The Journal of the European College of Neuropsychopharmacology

In bipolar disorders, there are unclear diagnostic boundaries with unipolar depression and schizophrenia, inconsistency of treatment guidelines, relatively long trial-and-error phases of treatment optimization, and increasing use of complex combination therapies lacking empirical evidence. These suggest that the current definition of bipolar disorders based on clinical symptoms reflects a clinically and etiologically heterogeneous entity.

Author(s): 
Hasler, Gregor
Wolf, Andreas
Publication Title: 
BMC psychiatry

BACKGROUND: Effective interventions for maltreated children are impeded by gaps in our knowledge of the etiopathogenic mechanisms leading from maltreatment to mental disorders. Although some studies have already identified individual risk factors, there is a lack of large-scale multilevel research on how psychosocial, neurobiological, and genetic factors act in concert to modulate risk of internalizing psychopathology in childhood following maltreatment. To help close this gap, we aim to delineate gender-specific pathways from maltreatment to psychological disorder/resilience.

Author(s): 
White, Lars O.
Klein, Annette M.
Kirschbaum, Clemens
Kurz-Adam, Maria
Uhr, Manfred
M¸ller-Myhsok, Bertram
Hoffmann, Katrin
Sierau, Susan
Michel, Andrea
Stalder, Tobias
Horlich, Jenny
Keil, Jan
Andreas, Anna
Resch, Leonhard
Binser, Martin J.
Costa, Anna
Giourges, Elena
Neudecker, Eva
Wolf, Christiane
Scheuer, Sandra
Ising, Marcus
von Klitzing, Kai
Publication Title: 
The Psychiatric Clinics of North America

Some of the latest advances in personalized psychiatry with future research directions are discussed in this article. Many factors contribute to the phenotypic psychiatric profile in individual patients. These overlapping factors include but are not limited to genetics, epigenetics, central nervous system circuit alterations, family history, past personal history, environmental influences including early life stress, and more recent life stressors. The authors discuss the role of pharmacogenomics, particularly in the cytochrome P450 enzyme system in relation to treatment response.

Author(s): 
Alhajji, Lujain
Nemeroff, Charles B.
Publication Title: 
Expert Opinion on Drug Discovery

INTRODUCTION: Neurodevelopmental disorders (NDDs) are common and severely debilitating. Their chronic nature and reliance on both genetic and environmental factors makes studying NDDs and their treatment a challenging task. AREAS COVERED: Herein, the authors discuss the neurobiological mechanisms of NDDs, and present recommendations on their translational research and therapy, outlined by the International Stress and Behavior Society. Various drugs currently prescribed to treat NDDs also represent a highly diverse group.

Author(s): 
Homberg, Judith R.
Kyzar, Evan J.
Stewart, Adam Michael
Nguyen, Michael
Poudel, Manoj K.
Echevarria, David J.
Collier, Adam D.
Gaikwad, Siddharth
Klimenko, Viktor M.
Norton, William
Pittman, Julian
Nakamura, Shun
Koshiba, Mamiko
Yamanouchi, Hideo
Apryatin, Sergey A.
Scattoni, Maria Luisa
Diamond, David M.
Ullmann, Jeremy F. P.
Parker, Matthew O.
Brown, Richard E.
Song, Cai
Kalueff, Allan V.
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