keyword
https://read.qxmd.com/read/37882688/pharmacogenetic-testing-may-benefit-people-receiving-low-dose-lithium-in-clinical-practice
#21
JOURNAL ARTICLE
Michael Ray Dickerson, Jennifer Reed
BACKGROUND: Mental illnesses are leading causes of disability in the United States. Some evidence supports that pharmacogenetic testing may be beneficial in select populations and that lithium is beneficial for treating mood disorders and anxiety in some populations. PURPOSE: This research aimed to determine whether low-dose lithium effectively decreases depression and anxiety in adults with a risk allele for CACNA1C genotypes. METHODOLOGY: The study design was correlational...
October 26, 2023: Journal of the American Association of Nurse Practitioners
https://read.qxmd.com/read/37881560/telomere-length-associations-with-clinical-diagnosis-age-and-polygenic-risk-scores-for-anxiety-disorder-depression-and-bipolar-disorder
#22
JOURNAL ARTICLE
Julian Mutz, Cathryn M Lewis
BACKGROUND: Accelerated biological aging might contribute to the lower life expectancy of individuals with mental disorders. The aim of this study was to characterize telomere length, a biological hallmark of aging, in individuals with mental disorders. METHODS: The UK Biobank is a multicenter community-based observational study that recruited >500,000 middle-aged and older adults. Average leukocyte telomere length (telomere repeat copy number/single-copy gene ratio) was measured using quantitative polymerase chain reaction...
October 2023: Biol Psychiatry Glob Open Sci
https://read.qxmd.com/read/37861813/formulating-treatment-of-major-psychiatric-disorders-algorithm-targets-the-dominantly-affected-brain-cell-types
#23
REVIEW
Jeffrey Fessel
BACKGROUND: Pharmacotherapy for most psychiatric conditions was developed from serendipitous observations of benefit from drugs prescribed for different reasons. An algorithmic approach to formulating pharmacotherapy is proposed, based upon which combination of changed activities by brain cell-types is dominant for any particular condition, because those cell-types contain and surrogate for genetic, metabolic and environmental information, that has affected their function. The algorithm performs because functions of some or all the affected cell-types benefit from several available drugs: clemastine, dantrolene, erythropoietin, fingolimod, fluoxetine, lithium, memantine, minocycline, pioglitazone, piracetam, and riluzole PROCEDURES/FINDINGS: Bipolar disorder, major depressive disorder, schizophrenia, Alzheimer's disease, and post-traumatic stress disorder, illustrate the algorithm; for them, literature reviews show that no single combination of altered cell-types accounts for all cases; but they identify, for each condition, which combination occurs most frequently, i...
January 5, 2023: Discov Ment Health
https://read.qxmd.com/read/37770441/polygenic-risk-scores-of-lithium-response-and-treatment-resistance-in-major-depressive-disorder
#24
JOURNAL ARTICLE
Ying Xiong, Robert Karlsson, Jie Song, Kaarina Kowalec, Christian Rück, Robert Sigström, Lina Jonsson, Caitlin C Clements, Evelyn Andersson, Julia Boberg, Cathryn M Lewis, Patrick F Sullivan, Mikael Landén, Yi Lu
Treatment response and resistance in major depressive disorder (MDD) are suggested to be heritable. Due to significant challenges in defining treatment-related phenotypes, our understanding of their genetic bases is limited. This study aimed to derive a stringent definition of treatment resistance and to investigate the genetic overlap between treatment response and resistance in MDD. Using electronic medical records on the use of antidepressants and electroconvulsive therapy (ECT) from Swedish registers, we derived the phenotype of treatment-resistant depression (TRD) and non-TRD within ~4500 individuals with MDD in three Swedish cohorts...
September 28, 2023: Translational Psychiatry
https://read.qxmd.com/read/37730845/camkk2-as-an-emerging-treatment-target-for-bipolar-disorder
#25
REVIEW
Jacqueline Kaiser, Kevin Nay, Christopher R Horne, Luke M McAloon, Oliver K Fuller, Abbey G Muller, Douglas G Whyte, Anthony R Means, Ken Walder, Michael Berk, Anthony J Hannan, James M Murphy, Mark A Febbraio, Andrew L Gundlach, John W Scott
Current pharmacological treatments for bipolar disorder are inadequate and based on serendipitously discovered drugs often with limited efficacy, burdensome side-effects, and unclear mechanisms of action. Advances in drug development for the treatment of bipolar disorder remain incremental and have come largely from repurposing drugs used for other psychiatric conditions, a strategy that has failed to find truly revolutionary therapies, as it does not target the mood instability that characterises the condition...
September 20, 2023: Molecular Psychiatry
https://read.qxmd.com/read/37662097/the-immunomodulatory-effect-of-lithium-as-a-mechanism-of-action-in-bipolar-disorder
#26
REVIEW
Łukasz P Szałach, Katarzyna A Lisowska, Wiesław J Cubała, Margherita Barbuti, Giulio Perugi
Bipolar disorder (BD) is a chronic mental disorder characterized by recurrent episodes of mania and depression alternating with periods of euthymia. Although environmental and genetic factors have been described, their pathogenesis is not fully understood. Much evidence suggests a role for inflammatory mediators and immune dysregulation in the development of BD. The first-line treatment in BD are mood-stabilizing agents, one of which is lithium (Li) salts. The Li mechanism of action is not fully understood, but it has been proposed that its robust immunomodulatory properties might be one of the mechanisms responsible for its effectiveness...
2023: Frontiers in Neuroscience
https://read.qxmd.com/read/37655588/preliminary-results-from-the-australian-genetics-of-bipolar-disorder-study-a-nation-wide-cohort
#27
JOURNAL ARTICLE
Penelope A Lind, Dan J Siskind, Ian B Hickie, Lucía Colodro-Conde, Simone Cross, Richard Parker, Nicholas G Martin, Sarah E Medland
OBJECTIVE: The Australian Genetics of Bipolar Disorder Study is a nation-wide cohort of adults living with bipolar disorder. The study aims to detect the relationships between genetic risk, symptom severity, and the lifetime prevalence of bipolar disorder, treatment response and medication side effects, and patterns and costs of health care usage. METHODS: A total of 6682 participants (68.3% female; aged 44.8 ± 13.6 years [range = 18-90]) were recruited in three waves: a nation-wide media campaign, a mail-out based on prescriptions for lithium carbonate and through the Australian Genetics of Depression Study...
September 1, 2023: Australian and New Zealand Journal of Psychiatry
https://read.qxmd.com/read/37554197/defective-emc1-drives-abnormal-retinal-angiogenesis-via-wnt-%C3%AE-catenin-signaling-and-may-be-associated-with-the-pathogenesis-of-familial-exudative-vitreoretinopathy
#28
JOURNAL ARTICLE
Shujin Li, Mu Yang, Rulian Zhao, Li Peng, Wenjing Liu, Xiaoyan Jiang, Yunqi He, Erkuan Dai, Lin Zhang, Yeming Yang, Yi Shi, Peiquan Zhao, Zhenglin Yang, Xianjun Zhu
Endoplasmic reticulum (ER) membrane protein complex (EMC) is required for the co-translational insertion of newly synthesized multi-transmembrane proteins. Compromised EMC function in different cell types has been implicated in multiple diseases. Using inducible genetic mouse models, we revealed defects in retinal vascularization upon endothelial cell (EC) specific deletion of Emc1 , the largest subunit of EMC. Loss of Emc1 in ECs led to reduced vascular progression and vascular density, diminished tip cell sprouts, and vascular leakage...
November 2023: Genes & Diseases
https://read.qxmd.com/read/37528149/exome-wide-association-study-of-treatment-resistant-depression-suggests-novel-treatment-targets
#29
JOURNAL ARTICLE
Shrey B Shah, Teja N Peddada, Christopher Song, Maame Mensah, Heejong Sung, Mani Yavi, Peixiong Yuan, Carlos A Zarate, Brian J Mickey, Margit Burmeister, Nirmala Akula, Francis J McMahon
Treatment-resistant depression (TRD) is a severe form of major depressive disorder (MDD) with substantial public health impact and poor treatment outcome. Treatment outcome in MDD is significantly heritable, but genome-wide association studies have failed to identify replicable common marker alleles, suggesting a potential role for uncommon variants. Here we investigated the hypothesis that uncommon, putatively functional genetic variants are associated with TRD. Whole-exome sequencing data was obtained from 182 TRD cases and 2021 psychiatrically healthy controls...
August 1, 2023: Scientific Reports
https://read.qxmd.com/read/37492064/transient-splenial-lesion-syndrome-in-bipolar-ii-disorder-a-case-report-highlighting-reversible-brain-changes-during-hypomanic-episodes
#30
Jingyuan Zhou, Yuan Cao, Gaoju Deng, Jinbo Fang, Changjian Qiu
BACKGROUND: Reversible splenial lesion syndrome (RESLES) is a rare neurological condition characterized by temporary abnormalities in the splenium of the corpus callosum, which has been reported in mental disorders. Previous studies on bipolar disorder (BD) primarily focused on aspects such as brain structure and function, neurochemical changes, and genetics. However, there have been no studies reporting the occurrence of this syndrome during hypomanic episodes and its disappearance during the remission phase in bipolar disorder type 2 (BD-II)...
2023: Frontiers in Psychiatry
https://read.qxmd.com/read/37488168/immunoglobulin-genes-expressed-in-lymphoblastoid-cell-lines-discern-and-predict-lithium-response-in-bipolar-disorder-patients
#31
JOURNAL ARTICLE
Liron Mizrahi, Ashwani Choudhary, Polina Ofer, Gabriela Goldberg, Elena Milanesi, John R Kelsoe, David Gurwitz, Martin Alda, Fred H Gage, Shani Stern
Bipolar disorder (BD) is a neuropsychiatric mood disorder manifested by recurrent episodes of mania and depression. More than half of BD patients are non-responsive to lithium, the first-line treatment drug, complicating BD clinical management. Given its unknown etiology, it is pertinent to understand the genetic signatures that lead to variability in lithium response. We discovered a set of differentially expressed genes (DEGs) from the lymphoblastoid cell lines (LCLs) of 10 controls and 19 BD patients belonging mainly to the immunoglobulin gene family that can be used as potential biomarkers to diagnose and treat BD...
July 24, 2023: Molecular Psychiatry
https://read.qxmd.com/read/37461719/immunogenetics-of-lithium-response-and-psychiatric-phenotypes-in-patients-with-bipolar-disorder
#32
Marisol Herrera-Rivero, Karina Gutiérrez-Fragoso, Anbupalam Thalamuthu, Azmeraw T Amare, Mazda Adli, Kazufumi Akiyama, Nirmala Akula, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Bhattacharjee Abesh, Joanna Biernacka, Armin Birner, Micah Cearns, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Scott Clark, Francesc Colom, Cristiana Cruceanu, Piotr Czerski, Nina Dalkner, Franziska Degenhardt, Maria Del Zompo, J Raymond DePaulo, Bruno Etain, Peter Falkai, Ewa Ferensztajn-Rochowiak, Andreas J Forstner, Josef Frank, Louise Frisen, Mark Frye, Janice Fullerton, Carla Gallo, Sebastien Gard, Julie Garnham, Fernando Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Roland Hasler, Joanna Hauser, Urs Heilbronner, Stefan Herms, Per Hoffmann, Liping Hou, YiHsiang Hsu, Stéphane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Po-Hsiu Kuo, Joachim Kurtz, Ichiro Kusumi, Barbara König, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan Leckband, Mario Maj, Mirko Manchia, Cynthia Marie-Claire, Lina Martinsson, Michael McCarthy, Susan L McElroy, Vincent Millischer, Marina Mitjans, Francis Mondimore, Palmiero Monteleone, Caroline Nievergelt, Tomas Novak, Markus Nöthen, Claire Odonovan, Norio Ozaki, Sergi Papiol, Andrea Pfennig, Claudia Pisanu, James Potash, Andreas Reif, Eva Reininghaus, Hélène Richard-Lepouriel, Gloria Roberts, Guy Rouleau, Janusz K Rybakowski, Martin Schalling, Peter Schofield, Klaus Oliver Schubert, Eva Schulte, Barbara Schweizer, Giovanni Severino, Tatyana Shekhtman, Paul Shilling, Kazutaka Shimoda, Christian Simhandl, Claire Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Fabian Streit, Fasil Ayele, Alfonso Tortorella, Gustavo Turecki, Julia Veeh, Eduard Vieta, Biju Viswanath, Stephanie Witt, Peter Zandi, Martin Alda, Michael Bauer, Francis McMahon, Philip Mitchell, Marcella Rietschel, Thomas Schulze, Bernhard Baune
The link between bipolar disorder (BP) and immune dysfunction remains controversial. While epidemiological studies have long suggested an association, recent research has found only limited evidence of such a relationship. To clarify this, we investigated the contributions of immune-relevant genetic factors to the response to lithium (Li) treatment and the clinical presentation of BP. First, we assessed the association of a large collection of immune-related genes (4,925) with Li response, defined by the Retrospective Assessment of the Lithium Response Phenotype Scale (Alda scale), and clinical characteristics in patients with BP from the International Consortium on Lithium Genetics (ConLi + Gen, N = 2,374)...
June 26, 2023: Research Square
https://read.qxmd.com/read/37433967/association-of-polygenic-score-and-the-involvement-of-cholinergic-and-glutamatergic-pathways-with-lithium-treatment-response-in-patients-with-bipolar-disorder
#33
JOURNAL ARTICLE
Azmeraw T Amare, Anbupalam Thalamuthu, Klaus Oliver Schubert, Janice M Fullerton, Muktar Ahmed, Simon Hartmann, Sergi Papiol, Urs Heilbronner, Franziska Degenhardt, Fasil Tekola-Ayele, Liping Hou, Yi-Hsiang Hsu, Tatyana Shekhtman, Mazda Adli, Nirmala Akula, Kazufumi Akiyama, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Roland Hasler, Hélène Richard-Lepouriel, Nader Perroud, Lena Backlund, Abesh Kumar Bhattacharjee, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Joanna M Biernacka, Armin Birner, Cynthia Marie-Claire, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Cristiana Cruceanu, Piotr M Czerski, Nina Dalkner, Maria Del Zompo, J Raymond DePaulo, Bruno Étain, Stephane Jamain, Peter Falkai, Andreas J Forstner, Louise Frisen, Mark A Frye, Sébastien Gard, Julie S Garnham, Fernando S Goes, Maria Grigoroiu-Serbanescu, Andreas J Fallgatter, Sophia Stegmaier, Thomas Ethofer, Silvia Biere, Kristiyana Petrova, Ceylan Schuster, Kristina Adorjan, Monika Budde, Maria Heilbronner, Janos L Kalman, Mojtaba Oraki Kohshour, Daniela Reich-Erkelenz, Sabrina K Schaupp, Eva C Schulte, Fanny Senner, Thomas Vogl, Ion-George Anghelescu, Volker Arolt, Udo Dannlowski, Detlef Dietrich, Christian Figge, Markus Jäger, Fabian U Lang, Georg Juckel, Carsten Konrad, Jens Reimer, Max Schmauß, Andrea Schmitt, Carsten Spitzer, Martin von Hagen, Jens Wiltfang, Jörg Zimmermann, Till F M Andlauer, Andre Fischer, Felix Bermpohl, Philipp Ritter, Silke Matura, Anna Gryaznova, Irina Falkenberg, Cüneyt Yildiz, Tilo Kircher, Julia Schmidt, Marius Koch, Kathrin Gade, Sarah Trost, Ida S Haussleiter, Martin Lambert, Anja C Rohenkohl, Vivien Kraft, Paul Grof, Ryota Hashimoto, Joanna Hauser, Stefan Herms, Per Hoffmann, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Po-Hsiu Kuo, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Ewa Ferensztajn-Rochowiak, Barbara König, Ichiro Kusumi, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G Leckband, Alfonso Tortorella, Mirko Manchia, Lina Martinsson, Michael J McCarthy, Susan McElroy, Francesc Colom, Vincent Millischer, Marina Mitjans, Francis M Mondimore, Palmiero Monteleone, Caroline M Nievergelt, Markus M Nöthen, Tomas Novák, Claire O'Donovan, Norio Ozaki, Andrea Pfennig, Claudia Pisanu, James B Potash, Andreas Reif, Eva Reininghaus, Guy A Rouleau, Janusz K Rybakowski, Martin Schalling, Peter R Schofield, Barbara W Schweizer, Giovanni Severino, Paul D Shilling, Katzutaka Shimoda, Christian Simhandl, Claire M Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Mario Maj, Gustavo Turecki, Eduard Vieta, Julia Veeh, Stephanie H Witt, Adam Wright, Peter P Zandi, Philip B Mitchell, Michael Bauer, Martin Alda, Marcella Rietschel, Francis J McMahon, Thomas G Schulze, Scott R Clark, Bernhard T Baune
Lithium is regarded as the first-line treatment for bipolar disorder (BD), a severe and disabling mental health disorder that affects about 1% of the population worldwide. Nevertheless, lithium is not consistently effective, with only 30% of patients showing a favorable response to treatment. To provide personalized treatment options for bipolar patients, it is essential to identify prediction biomarkers such as polygenic scores. In this study, we developed a polygenic score for lithium treatment response (Li+ PGS ) in patients with BD...
July 11, 2023: Molecular Psychiatry
https://read.qxmd.com/read/37420624/a-novel-fusion-method-for-state-of-charge-estimation-of-lithium-ion-batteries-based-on-improved-genetic-algorithm-bp-and-adaptive-extended-kalman-filter
#34
JOURNAL ARTICLE
Liling Cao, Changfu Shao, Zheng Zhang, Shouqi Cao
The lithium-ion battery is the power source of an electric vehicle, so it is of great significance to estimate the state of charge (SOC) of lithium-ion batteries accurately to ensure vehicle safety. To improve the accuracy of the parameters of the equivalent circuit model for batteries, a second-order RC model for ternary Li-ion batteries is established, and the model parameters are identified online based on the forgetting factor recursive least squares (FFRLS) estimator. To improve the accuracy of SOC estimation, a novel fusion method, IGA-BP-AEKF, is proposed...
June 9, 2023: Sensors
https://read.qxmd.com/read/37353479/role-of-microtubule-actin-crosslinking-factor-1-macf1-in-bipolar-disorder-pathophysiology-and-potential-in-lithium-therapeutic-mechanism
#35
REVIEW
Deepak Salem, Ronald J Fecek
Bipolar affective disorder (BPAD) are life-long disorders that account for significant morbidity in afflicted patients. The etiology of BPAD is complex, combining genetic and environmental factors to increase the risk of disease. Genetic studies have pointed toward cytoskeletal dysfunction as a potential molecular mechanism through which BPAD may arise and have implicated proteins that regulate the cytoskeleton as risk factors. Microtubule actin crosslinking factor 1 (MACF1) is a giant cytoskeletal crosslinking protein that can coordinate the different aspects of the mammalian cytoskeleton with a wide variety of actions...
June 23, 2023: Translational Psychiatry
https://read.qxmd.com/read/37293101/cell-type-deconvolution-of-bulk-blood-rna-seq-to-reveal-biological-insights-of-neuropsychiatric-disorders
#36
Toni Boltz, Tommer Schwarz, Merel Bot, Kangcheng Hou, Christa Caggiano, Sandra Lapinska, Chenda Duan, Marco P Boks, Rene S Kahn, Noah Zaitlen, Bogdan Pasaniuc, Roel Ophoff
Genome-wide association studies (GWAS) have uncovered susceptibility loci associated with psychiatric disorders like bipolar disorder (BP) and schizophrenia (SCZ). However, most of these loci are in non-coding regions of the genome with unknown causal mechanisms of the link between genetic variation and disease risk. Expression quantitative trait loci (eQTL) analysis of bulk tissue is a common approach to decipher underlying mechanisms, though this can obscure cell-type specific signals thus masking trait-relevant mechanisms...
May 25, 2023: bioRxiv
https://read.qxmd.com/read/37288798/long-read-sequencing-assays-designed-to-detect-potential-gene-editing-events-in-the-myostatin-gene-revealed-distinct-haplotype-signatures-in-the-thoroughbred-horse-population
#37
JOURNAL ARTICLE
Jillian Maniego, Orla Giles, Pamela Hincks, Graham Stewart, Christopher Proudman, Edward Ryder
We present here the use of targeted, long-read sequencing of the myostatin (MSTN) gene as a model to detect potential gene editing events in Thoroughbred horses. MSTN is a negative regulator of muscle development, making the gene a prime candidate target for gene doping. By sequencing the complete gene in one PCR product, we can catalogue all mutations without the need to produce short-fragment libraries. A panel of reference material fragments with defined mutations was constructed and successfully sequenced by both Oxford Nanopore and Illumina-based methods, showing that gene doping editing events can be detected using this technology...
June 8, 2023: Animal Genetics
https://read.qxmd.com/read/37236419/a-genome-wide-association-study-of-antidepressant-induced-mania
#38
JOURNAL ARTICLE
Clement C Zai, Alessio Squassina, Arun K Tiwari, Claudia Pisanu, Marco Pinna, Federica Pinna, Anna Meloni, Pasquale Paribello, Bernardo Carpiniello, Leonardo Tondo, Mark A Frye, Joanna M Biernacka, Brandon J Coombes, James L Kennedy, Mirko Manchia
Antidepressant-induced mania (AIM) is a side effect of antidepressant treatment that is characterized by mania or hypomania after the start of medication. It is likely polygenic, but its genetic component remains largely unexplored. We aim to conduct the first genome-wide association study of AIM in 814 bipolar disorder patients of European ancestry. We report no significant findings from our single-marker or gene-based analyses. Our polygenic risk score analyses also did not yield significant results with bipolar disorder, antidepressant response, or lithium response...
May 24, 2023: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://read.qxmd.com/read/37194436/layered-li-co-b-as-a-low-potential-anode-for-lithium-ion-batteries
#39
JOURNAL ARTICLE
Jiaying Sun, Renhai Wang, Zhiyuan Ding, Xunjiang Zhang, QianRong Zhang, Bingkai Zhang, Huafeng Dong, Fugen Wu
An anode material is one of the key factors affecting the capacity, cycle, and rate (fast charge) performance of lithium-ion batteries. Using the adaptive genetic algorithm, we found a new ground-state Li2 CoB and two metastable states LiCoB and LiCo2 B2 in the Li-Co-B system. The Li2 CoB phase is a lithium-rich layered structure, and it has an equivalent lithium-ion migration barrier (0.32 eV) in addition to the lower voltage platform (0.05 V) than graphite, which is the most important commercial anode material at present...
May 17, 2023: Inorganic Chemistry
https://read.qxmd.com/read/37190775/familial-traits-of-bipolar-disorder-a-systematic-review-and-meta-analysis
#40
REVIEW
Katie Scott, Abraham Nunes, Barbara Pavlova, Sandra Meier, Martin Alda
BACKGROUND: Genetic studies of bipolar disorder (BD) have shown varied results, which is in part because of the heterogeneity of the disorder. Identifying clinical phenotypes of BD could reduce variability and benefit research. Since BD has a robust genetic component, studies can investigate clinical traits that cluster in families to identify phenotypes with a probable genetic basis. METHODS: We conducted a systematic review of the current literature on familial clinical traits of BD...
August 2023: Acta Psychiatrica Scandinavica
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