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Lithium genetics

Jan Scott, Pierre Alexis Geoffroy, Sarah Sportiche, Clara Brichant-Petit-Jean, Sebastien Gard, Jean-Pierre Kahn, Jean-Michel Azorin, Chantal Henry, Bruno Etain, Frank Bellivier
BACKGROUND: It is increasingly recognised that reliable and valid assessments of lithium response are needed in order to target more efficiently the use of this medication in bipolar disorders (BD) and to identify genotypes, endophenotypes and biomarkers of response. METHODS: In a large, multi-centre, clinically representative sample of 300 cases of BD, we assess external clinical validators of lithium response phenotypes as defined using three different recommended approaches to scoring the Alda lithium response scale...
October 11, 2016: Journal of Affective Disorders
Morgane Milienne-Petiot, James P Kesby, Mary Graves, Jordy van Enkhuizen, Svetlana Semenova, Arpi Minassian, Athina Markou, Mark A Geyer, Jared W Young
BACKGROUND: Bipolar disorder (BD) mania patients exhibit poor cognition and reward-seeking/hypermotivation, negatively impacting a patient's quality of life. Current treatments (e.g., lithium), do not treat such deficits. Treatment development has been limited due to a poor understanding of the neural mechanisms underlying these behaviors. Here, we investigated putative mechanisms underlying cognition and reward-seeking/motivational changes relevant to BD mania patients using two validated mouse models and neurochemical analyses...
October 9, 2016: Neuropharmacology
Shihai Jia, Hyuk-Jae Edward Kwon, Yu Lan, Jing Zhou, Han Liu, Rulang Jiang
Mutations in MSX1 cause craniofacial developmental defects, including tooth agenesis, in humans and mice. Previous studies suggest that Msx1 activates Bmp4 expression in the developing tooth mesenchyme to drive early tooth organogenesis. Whereas Msx1(-/-) mice exhibit developmental arrest of all tooth germs at the bud stage, mice with neural crest-specific inactivation of Bmp4 (Bmp4(ncko)(/ncko)), which lack Bmp4 expression in the developing tooth mesenchyme, showed developmental arrest of only mandibular molars...
October 3, 2016: Developmental Biology
Chih-Ken Chen, Chau-Shoun Lee, Hsuan-Yu Chen, Lawrence Shih-Hsin Wu, Jung-Chen Chang, Chia-Yih Liu, Andrew Tai-Ann Cheng
BACKGROUND: Genetic variants and medication adherence have been identified to be the main factors contributing to lithium treatment response in bipolar disorders. AIMS: To simultaneously examine effects of variant glutamate decarboxylase-like protein 1 (GADL1) and medication adherence on response to lithium maintenance treatment in Han Chinese patients with bipolar I (BPI) disorder. METHOD: Frequencies of manic and depressive episodes between carriers and non-carriers of the effective GADL1 rs17026688 T allele during the cumulative periods of off-lithium, poor adherence to lithium treatment and good adherence to lithium treatment were compared in Han Chinese patients with BPI disorder (n=215)...
September 2016: BJPsych Open
G Pathak, M J Agostino, K Bishara, W R Capell, J L Fisher, S Hegde, B A Ibrahim, K Pilarzyk, C Sabin, T Tuczkewycz, S Wilson, M P Kelly
Lithium responsivity in patients with bipolar disorder has been genetically associated with Phosphodiesterase 11A (PDE11A), and lithium decreases PDE11A mRNA in induced pluripotent stem cell-derived hippocampal neurons originating from lithium-responsive patients. PDE11 is an enzyme uniquely enriched in the hippocampus that breaks down cyclic AMP and cyclic GMP. Here we determined whether decreasing PDE11A expression is sufficient to increase lithium responsivity in mice. In dorsal hippocampus and ventral hippocampus (VHIPP), lithium-responsive C57BL/6J and 129S6/SvEvTac mice show decreased PDE11A4 protein expression relative to lithium-unresponsive BALB/cJ mice...
September 20, 2016: Molecular Psychiatry
Claudia Pisanu, Carla Melis, Alessio Squassina
Preclinical Research Bipolar disorder (BPD) is a chronic and disabling psychiatric disorder with a prevalence of 0.8-1.2% in the general population. Although lithium is considered the first-line treatment, a large percentage of patients do not respond sufficiently. Moreover, lithium can induce severe side effects and has poor tolerance and a narrow therapeutic index. The genetics of lithium response has been largely investigated, but findings have so far failed to identify reliable biomarkers to predict clinical response...
September 16, 2016: Drug Development Research
Veerle Bergink, Natalie Rasgon, Katherine L Wisner
OBJECTIVE: Psychosis or mania after childbirth is a psychiatric emergency with risk for suicide and infanticide. METHOD: The authors reviewed the epidemiologic and genetic research and physiological postpartum triggers (endocrine, immunological, circadian) of psychosis. They also summarized all systematic reviews and synthesized the sparse clinical studies to provide diagnostic recommendations, treatment options, and strategies for prevention. RESULTS: The incidence of first-lifetime onset postpartum psychosis/mania from population-based register studies of psychiatric admissions varies from 0...
September 9, 2016: American Journal of Psychiatry
Breidge Boyle, Ester Garne, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Clara Cavero-Carbonell, Miriam Gatt, Nathalie Lelong, Catherine Lynch, Vera Nelen, Amanda J Neville, Mary O'Mahony, Anna Pierini, Anke Rissmann, David Tucker, Natalia Zymak-Zakutnia, Helen Dolk
OBJECTIVES: The aim of this study was to describe the epidemiology of Ebstein's anomaly in Europe and its association with maternal health and medication exposure during pregnancy. DESIGN: We carried out a descriptive epidemiological analysis of population-based data. SETTING: We included data from 15 European Surveillance of Congenital Anomalies Congenital Anomaly Registries in 12 European countries, with a population of 5.6 million births during 1982-2011...
August 30, 2016: Cardiology in the Young
Zhongxiao Wang, Chi-Hsiu Liu, Ye Sun, Yan Gong, Tara L Favazza, Peyton C Morss, Nicholas J Saba, Thomas W Fredrick, Xi He, James D Akula, Jing Chen
Familial exudative vitreoretinopathy (FEVR) is characterized by delayed retinal vascular development, which promotes hypoxia-induced pathologic vessels. In severe cases FEVR may lead to retinal detachment and visual impairment. Genetic studies linked FEVR with mutations in Wnt signaling ligand or receptors, including low-density lipoprotein receptor-related protein 5 (LRP5) gene. Here, we investigated ocular pathologies in a Lrp5 knockout (Lrp5(-/-)) mouse model of FEVR and explored whether treatment with a pharmacologic Wnt activator lithium could bypass the genetic defects, thereby protecting against eye pathologies...
October 2016: American Journal of Pathology
Matias C A Melo, Rafael L C Abreu, Vicente B Linhares Neto, Pedro F C de Bruin, Veralice M S de Bruin
Despite a complex relationship between mood, sleep and rhythm, the impact of circadian disruptions on bipolar disorder (BD) has not been clarified. The purpose of this systematic review was to define current evidence regarding chronotype and circadian rhythm patterns in BD patients. 42 studies were included, involving 3432 BD patients. Disruption of the biological rhythm was identified, even in drug-naïve BD patients and independently of mood status. Daily profiles of melatonin levels and cortisol indicated a delayed phase...
July 1, 2016: Sleep Medicine Reviews
Joanna Pawlak, Monika Dmitrzak-Weglarz, Monika Wilkosc, Aleksandra Szczepankiewicz, Anna Leszczynska-Rodziewicz, Dorota Zaremba, Pawel Kapelski, Aleksandra Rajewska-Rager, Joanna Hauser
INTRODUCTION: Studies have not given yet a clear answer what is the genetic background of suicidal predisposition. The associations between polymorphisms of the TPH1 and 5-HTTLPR genes and violent suicidal behavior was revealed with the least inconsistencies. METHOD: We selected 10 "strong candidate genes" and 35 SNPs, SLC6A4 and ACP1 for replication study. We searched associations between precisely described suicidal phenotype in 825 affective patients and polymorphisms of selected neurobiological pathways genes as well as their interactions that constitute suicidal risk...
July 19, 2016: Journal of Affective Disorders
Elizabeth X Kwan, Xiaobin S Wang, Haley M Amemiya, Bonita J Brewer, M K Raghuraman
The Saccharomyces cerevisiae ribosomal DNA (rDNA) locus is known to exhibit greater instability relative to the rest of the genome. However, wild-type cells preferentially maintain a stable number of rDNA copies, suggesting underlying genetic control of the size of this locus. We performed a screen of a subset of the Yeast Knock-Out (YKO) single gene deletion collection to identify genetic regulators of this locus and to determine if rDNA copy number correlates with yeast replicative lifespan. While we found no correlation between replicative lifespan and rDNA size, we identified 64 candidate strains with significant rDNA copy number differences...
2016: G3: Genes—Genomes—Genetics
Yung-Yu Tsai, Takao Ohashi, Takenori Kanazawa, Pirapan Polburee, Ryo Misaki, Savitree Limtong, Kazuhito Fujiyama
Rhodosporidium toruloides DMKU3-TK16 (TK16), a basidiomycetous yeast isolated in Thailand, can produce a large amount of oil corresponding to approximately 70 % of its dry cell weight. However, lack of a sufficient and efficient transformation method makes further genetic manipulation of this organism difficult. We here developed a new transformation system for R. toruloides using a lithium acetate method with the Sh ble gene as a selective marker under the control of the R. toruloides ATCC 10657 GPD1 promoter...
July 11, 2016: Current Genetics
Claudia Brandt, Marion Bankstahl, Kathrin Töllner, Rebecca Klee, Wolfgang Löscher
Rat strains such as Sprague-Dawley (SD) or Wistar are widely used in epilepsy research, including popular models of temporal lobe epilepsy in which spontaneous recurrent seizures (SRS), hippocampal damage, and behavioral alterations develop after status epilepticus (SE). Such rats are randomly outbred, and outbred strains are known to be genetically heterogeneous populations with a high intrastrain variation. Intrastrain differences may be an important reason for discrepancies between studies from different laboratories, but the extent to which such differences affect the development of seizures, neurodegeneration, and psychopathology in post-SE models of epilepsy has received relatively little attention...
August 2016: Epilepsy & Behavior: E&B
Marcin Cwynar, Jerzy Gąsowski, Anna Głuszewska, Jarosław Królczyk, Henryk Bartoń, Agnieszka Słowik, Tomasz Grodzicki
INTRODUCTION: Although recently a matter of epidemiologic controversy, sodium overload and its interaction with genetic factors predispose to hypertension and related target organ complications. METHODS: In 131 (66 male) treated hypertensives, we measured peripheral and central arterial pressures and pulse wave augmentation indexes (AIx(P), AIx(C1), AIx(C2)), pulse wave velocity (PWV), daily urinary sodium excretion and did genetic studies of AGTR1 A1166C and AGTR2 G1675A polymorphisms...
April 2016: Journal of the Renin-angiotensin-aldosterone System: JRAAS
Liping Hou, Sarah E Bergen, Nirmala Akula, Jie Song, Christina M Hultman, Mikael Landén, Mazda Adli, Martin Alda, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Judith A Badner, Thomas B Barrett, Michael Bauer, Bernhard T Baune, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Wade H Berrettini, Abesh Kumar Bhattacharjee, Joanna M Biernacka, Armin Birner, Cinnamon S Bloss, Clara Brichant-Petitjean, Elise T Bui, William Byerley, Pablo Cervantes, Caterina Chillotti, Sven Cichon, Francesc Colom, William Coryell, David W Craig, Cristiana Cruceanu, Piotr M Czerski, Tony Davis, Alexandre Dayer, Franziska Degenhardt, Maria Del Zompo, J Raymond DePaulo, Howard J Edenberg, Bruno Étain, Peter Falkai, Tatiana Foroud, Andreas J Forstner, Louise Frisén, Mark A Frye, Janice M Fullerton, Sébastien Gard, Julie S Garnham, Elliot S Gershon, Fernando S Goes, Tiffany A Greenwood, Maria Grigoroiu-Serbanescu, Joanna Hauser, Urs Heilbronner, Stefanie Heilmann-Heimbach, Stefan Herms, Maria Hipolito, Shashi Hitturlingappa, Per Hoffmann, Andrea Hofmann, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, John R Kelsoe, Sarah Kittel-Schneider, Sebastian Kliwicki, Daniel L Koller, Barbara König, Nina Lackner, Gonzalo Laje, Maren Lang, Catharina Lavebratt, William B Lawson, Marion Leboyer, Susan G Leckband, Chunyu Liu, Anna Maaser, Pamela B Mahon, Wolfgang Maier, Mario Maj, Mirko Manchia, Lina Martinsson, Michael J McCarthy, Susan L McElroy, Melvin G McInnis, Rebecca McKinney, Philip B Mitchell, Marina Mitjans, Francis M Mondimore, Palmiero Monteleone, Thomas W Mühleisen, Caroline M Nievergelt, Markus M Nöthen, Tomas Novák, John I Nurnberger, Evaristus A Nwulia, Urban Ösby, Andrea Pfennig, James B Potash, Peter Propping, Andreas Reif, Eva Reininghaus, John Rice, Marcella Rietschel, Guy A Rouleau, Janusz K Rybakowski, Martin Schalling, William A Scheftner, Peter R Schofield, Nicholas J Schork, Thomas G Schulze, Johannes Schumacher, Barbara W Schweizer, Giovanni Severino, Tatyana Shekhtman, Paul D Shilling, Christian Simhandl, Claire M Slaney, Erin N Smith, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Fabian Streit, Jana Strohmaier, Szabolcs Szelinger, Sarah K Tighe, Alfonso Tortorella, Gustavo Turecki, Eduard Vieta, Julia Volkert, Stephanie H Witt, Adam Wright, Peter P Zandi, Peng Zhang, Sebastian Zollner, Francis J McMahon
Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behavior. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage meta-analysis of >9 million genetic variants in 9,784 bipolar disorder patients and 30,471 controls, the largest GWAS of BD to date. In this study, to increase power we used ∼2,000 lithium-treated cases with a long-term diagnosis of BD from the Consortium on Lithium Genetics, excess controls, and analytic methods optimized for markers on the X-chromosome...
June 21, 2016: Human Molecular Genetics
P A Geoffroy, B Etain, M Lajnef, E-H Zerdazi, C Brichant-Petitjean, U Heilbronner, L Hou, F Degenhardt, M Rietschel, F J McMahon, T G Schulze, S Jamain, C Marie-Claire, F Bellivier
Preliminary studies suggest that lithium (Li) response might be associated with some circadian gene polymorphisms, we therefore performed a pharmacogenetic study on the core clock genes in two independent samples suffering from bipolar disorder (BD) and thoroughly characterized for their Li response. Two independent Caucasian samples (165 and 58 bipolar patients) treated with Li were selected from samples recruited in a French multicenter study and assessed for their Li response using the Alda scale. The two samples were genotyped using the Human660 (H660) and OmniExpress (OE) BeadChips and gene-based association analyses of 22 core clock genes were conducted...
September 2016: Genes, Brain, and Behavior
F Bootsman, R M Brouwer, H G Schnack, S M Kemner, M H J Hillegers, G Sarkisyan, A C van der Schot, R Vonk, H E Hulshoff Pol, W A Nolen, R S Kahn, N E M van Haren
This is the first longitudinal twin study examining genetic and environmental contributions to the association between liability to bipolar disorder (BD) and changes over time in global brain volumes, and global and regional measures of cortical surface area, cortical thickness and cortical volume. A total of 50 twins from pairs discordant or concordant for BD (monozygotic: 8 discordant and 3 concordant pairs, and 1 patient and 3 co-twins from incomplete pairs; dizygotic: 6 discordant and 2 concordant pairs, and 1 patient and 7 co-twins from incomplete pairs) underwent magnetic resonance imaging twice...
August 2016: Journal of Psychiatric Research
Ketil J Oedegaard, Martin Alda, Anit Anand, Ole A Andreassen, Yokesh Balaraman, Wade H Berrettini, Abesh Bhattacharjee, Kristen J Brennand, Katherine E Burdick, Joseph R Calabrese, Cynthia V Calkin, Ana Claasen, William H Coryell, David Craig, Anna DeModena, Mark Frye, Fred H Gage, Keming Gao, Julie Garnham, Elliot Gershon, Petter Jakobsen, Susan G Leckband, Michael J McCarthy, Melvin G McInnis, Adam X Maihofer, Jerome Mertens, Gunnar Morken, Caroline M Nievergelt, John Nurnberger, Son Pham, Helle Schoeyen, Tatyana Shekhtman, Paul D Shilling, Szabolcs Szelinger, Bruce Tarwater, Jun Yao, Peter P Zandi, John R Kelsoe
BACKGROUND: Bipolar disorder is a serious and common psychiatric disorder characterized by manic and depressive mood switches and a relapsing and remitting course. The cornerstone of clinical management is stabilization and prophylaxis using mood-stabilizing medications to reduce both manic and depressive symptoms. Lithium remains the gold standard of treatment with the strongest data for both efficacy and suicide prevention. However, many patients do not respond to this medication, and clinically there is a great need for tools to aid the clinician in selecting the correct treatment...
2016: BMC Psychiatry
Paul J Harrison, Andrea Cipriani, Catherine J Harmer, Anna C Nobre, Kate Saunders, Guy M Goodwin, John R Geddes
All psychiatric disorders have suffered from a dearth of truly novel pharmacological interventions. In bipolar disorder, lithium remains a mainstay of treatment, six decades since its effects were serendipitously discovered. The lack of progress reflects several factors, including ignorance of the disorder's pathophysiology and the complexities of the clinical phenotype. After reviewing the current status, we discuss some ways forward. First, we highlight the need for a richer characterization of the clinical profile, facilitated by novel devices and new forms of data capture and analysis; such data are already promoting a reevaluation of the phenotype, with an emphasis on mood instability rather than on discrete clinical episodes...
February 2016: Annals of the New York Academy of Sciences
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