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Lithium genetics

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https://www.readbyqxmd.com/read/28398339/animal-models-to-improve-our-understanding-and-treatment-of-suicidal-behavior
#1
REVIEW
T D Gould, P Georgiou, L A Brenner, L Brundin, A Can, P Courtet, Z R Donaldson, Y Dwivedi, S Guillaume, I I Gottesman, S Kanekar, C A Lowry, P F Renshaw, D Rujescu, E G Smith, G Turecki, P Zanos, C A Zarate, P A Zunszain, T T Postolache
Worldwide, suicide is a leading cause of death. Although a sizable proportion of deaths by suicide may be preventable, it is well documented that despite major governmental and international investments in research, education and clinical practice suicide rates have not diminished and are even increasing among several at-risk populations. Although nonhuman animals do not engage in suicidal behavior amenable to translational studies, we argue that animal model systems are necessary to investigate candidate endophenotypes of suicidal behavior and the neurobiology underlying these endophenotypes...
April 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28319150/high-throughput-transformation-of-saccharomyces-cerevisiae-using-liquid-handling-robots
#2
Guangbo Liu, Clayton Lanham, J Ross Buchan, Matthew E Kaplan
Saccharomyces cerevisiae (budding yeast) is a powerful eukaryotic model organism ideally suited to high-throughput genetic analyses, which time and again has yielded insights that further our understanding of cell biology processes conserved in humans. Lithium Acetate (LiAc) transformation of yeast with DNA for the purposes of exogenous protein expression (e.g., plasmids) or genome mutation (e.g., gene mutation, deletion, epitope tagging) is a useful and long established method. However, a reliable and optimized high throughput transformation protocol that runs almost no risk of human error has not been described in the literature...
2017: PloS One
https://www.readbyqxmd.com/read/28242870/neurons-derived-from-patients-with-bipolar-disorder-divide-into-intrinsically-different-sub-populations-of-neurons-predicting-the-patients-responsiveness-to-lithium
#3
S Stern, R Santos, M C Marchetto, A P D Mendes, G A Rouleau, S Biesmans, Q-W Wang, J Yao, P Charnay, A G Bang, M Alda, F H Gage
Bipolar disorder (BD) is a progressive psychiatric disorder with more than 3% prevalence worldwide. Affected individuals experience recurrent episodes of depression and mania, disrupting normal life and increasing the risk of suicide greatly. The complexity and genetic heterogeneity of psychiatric disorders have challenged the development of animal and cellular models. We recently reported that hippocampal dentate gyrus (DG) neurons differentiated from induced pluripotent stem cell (iPSC)-derived fibroblasts of BD patients are electrophysiologically hyperexcitable...
February 28, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28212405/a-simplified-fractional-order-impedance-model-and-parameter-identification-method-for-lithium-ion-batteries
#4
Qingxia Yang, Jun Xu, Binggang Cao, Xiuqing Li
Identification of internal parameters of lithium-ion batteries is a useful tool to evaluate battery performance, and requires an effective model and algorithm. Based on the least square genetic algorithm, a simplified fractional order impedance model for lithium-ion batteries and the corresponding parameter identification method were developed. The simplified model was derived from the analysis of the electrochemical impedance spectroscopy data and the transient response of lithium-ion batteries with different states of charge...
2017: PloS One
https://www.readbyqxmd.com/read/28122627/therapeutic-potential-of-autophagy-enhancing-agents-in-parkinson-s-disease
#5
REVIEW
Tim E Moors, Jeroen J M Hoozemans, Angela Ingrassia, Tommaso Beccari, Lucilla Parnetti, Marie-Christine Chartier-Harlin, Wilma D J van de Berg
Converging evidence from genetic, pathological and experimental studies have increasingly suggested an important role for autophagy impairment in Parkinson's Disease (PD). Genetic studies have identified mutations in genes encoding for components of the autophagy-lysosomal pathway (ALP), including glucosidase beta acid 1 (GBA1), that are associated with increased risk for developing PD. Observations in PD brain tissue suggest an aberrant regulation of autophagy associated with the aggregation of α-synuclein (α-syn)...
January 25, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28117839/the-genetic-overlap-between-mood-disorders-and-cardiometabolic-diseases-a-systematic-review-of-genome-wide-and-candidate-gene-studies
#6
REVIEW
A T Amare, K O Schubert, M Klingler-Hoffmann, S Cohen-Woods, B T Baune
Meta-analyses of genome-wide association studies (meta-GWASs) and candidate gene studies have identified genetic variants associated with cardiovascular diseases, metabolic diseases and mood disorders. Although previous efforts were successful for individual disease conditions (single disease), limited information exists on shared genetic risk between these disorders. This article presents a detailed review and analysis of cardiometabolic diseases risk (CMD-R) genes that are also associated with mood disorders...
January 24, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28110053/development-and-optimization-of-an-in-vitro-cultivation-protocol-allows-for-isolation-of-borrelia-miyamotoi-from-patients-with-hard-tick-borne-relapsing-fever
#7
Joris Koetsveld, Nadezhda M Kolyasnikova, Alex Wagemakers, Marina G Toporkova, Denis S Sarksyan, Anneke Oei, Alexander E Platonov, Joppe W Hovius
OBJECTIVES: Borrelia miyamotoi has been shown to infect humans in Eurasia and North America causing hard tick-borne relapsing fever (HTBRF). In vitro cultivation of B. miyamotoi was described recently; however, clinical isolation of relapsing fever Borrelia is cumbersome. Our aim was to develop a straightforward protocol enabling B. miyamotoi isolation directly from blood of patients. METHODS: MKP-F media, with or without anticoagulants, or blood from healthy human volunteers, was spiked with B...
January 18, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28109561/lithium-reverses-behavioral-and-axonal-transport-related-changes-associated-with-ank3-bipolar-disorder-gene-disruption
#8
Michael G Gottschalk, Melanie P Leussis, Tillmann Ruland, Klaudio Gjeluci, Tracey L Petryshen, Sabine Bahn
Ankyrin 3 (ANK3) has been implicated as a genetic risk factor for bipolar disorder (BD), however the resulting pathophysiological and treatment implications remain elusive. In a preclinical systems biological approach, we aimed to characterize the behavioral and proteomic effects of Ank3 haploinsufficiency and chronic mood-stabilizer treatment in mice. Psychiatric-related behavior was evaluated with the novelty-suppressed feeding (NSF) paradigm, elevated plus maze (EPM) and a passive avoidance task (PAT). Tandem mass spectrometry (MS(E)) was employed for hippocampal proteome profiling...
January 18, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28108944/the-seroprevalence-of-antithyroid-peroxidase-antibodies-in-bipolar-families-and-bipolar-twins-results-from-two-longitudinal-studies
#9
G Snijders, L de Witte, E Mesman, S Kemner, R Vonk, R Brouwer, W A Nolen, H A Drexhage, M H J Hillegers
BACKGROUND: Previous studies of our group among bipolar offspring and bipolar twins showed significant higher prevalence's and levels of antithyroid peroxidase antibodies (TPO-Abs) in offspring and co-twins (without a mood disorder) compared to controls, suggesting that TPO-Abs might be considered as vulnerability factor (trait marker) for BD development. OBJECTIVES: Here we elucidate, in the same cohorts, but now after 12- and 6-year follow-up, whether TPO-abs should be considered as a 'trait' marker for BD...
December 2017: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/28095495/dna-methylation-analysis-of-brd1-promoter-regions-and-the-schizophrenia-rs138880-risk-allele
#10
Mads Dyrvig, Per Qvist, Jacek Lichota, Knud Larsen, Mette Nyegaard, Anders D Børglum, Jane H Christensen
The bromodomain containing 1 gene, BRD1 is essential for embryogenesis and CNS development. It encodes a protein that participates in histone modifying complexes and thereby regulates the expression of a large number of genes. Genetic variants in the BRD1 locus show association with schizophrenia and bipolar disorder and risk alleles in the promoter region correlate with reduced BRD1 expression. Insights into the transcriptional regulation of BRD1 and the pathogenic mechanisms associated with BRD1 risk variants, however, remain sparse...
2017: PloS One
https://www.readbyqxmd.com/read/28035180/bipolar-disorder-associated-microrna-mir-1908-5p-regulates-the-expression-of-genes-functioning-in-neuronal-glutamatergic-synapses
#11
Yoonhee Kim, Yinhua Zhang, Kaifang Pang, Hyojin Kang, Heejoo Park, Yeunkum Lee, Bokyoung Lee, Heon-Jeong Lee, Won-Ki Kim, Dongho Geum, Kihoon Han
Bipolar disorder (BD), characterized by recurrent mood swings between depression and mania, is a highly heritable and devastating mental illness with poorly defined pathophysiology. Recent genome-wide molecular genetic studies have identified several protein-coding genes and microRNAs (miRNAs) significantly associated with BD. Notably, some of the proteins expressed from BD-associated genes function in neuronal synapses, suggesting that abnormalities in synaptic function could be one of the key pathogenic mechanisms of BD...
December 2016: Experimental Neurobiology
https://www.readbyqxmd.com/read/27996307/clock-genes-associate-with-white-matter-integrity-in-depressed-bipolar-patients
#12
Irene Bollettini, Elisa Maria Teresa Melloni, Veronica Aggio, Sara Poletti, Cristina Lorenzi, Adele Pirovano, Benedetta Vai, Sara Dallaspezia, Cristina Colombo, Francesco Benedetti
Human genetic studies have implicated specific genes that constitute the molecular clock in the manifestation of bipolar disorder (BD). Among the clock genes involved in the control system of circadian rhythms, CLOCK 3111 T/C and Period3 (PER3) influence core psychopathological features of mood disorders, such as patterns of sleep, rest, and activity, diurnal preference, cognitive performances after sleep loss, age at the onset of the illness, and response to antidepressant treatment. Furthermore, several studies pointed out that bipolar symptomatology is associated with dysfunctions in white matter (WM) integrity, suggesting these structural alterations as a possible biomarker of the disorder...
2017: Chronobiology International
https://www.readbyqxmd.com/read/27923663/pharmacogenetics-of-lithium-effects-on-glomerular-function-in-bipolar-disorder-patients-under-chronic-lithium-treatment-a-pilot-study
#13
Evangelia Eirini Tsermpini, Yanfei Zhang, Paola Niola, Caterina Chillotti, Raffaella Ardau, Alberto Bocchetta, George P Patrinos, Maria Del Zompo, Giovanni Severino, Ming Ta Michael Lee, Alessio Squassina
Bipolar disorder (BD) is a psychiatric disease characterized by alternating episodes of mania and depression. Lithium (Li) represents the mainstay treatment for BD, although a significant proportion of patients shows insufficient or no response. Li is also associated with potentially severe side effects, including renal effects. Several studies reported that Li may induce reduction of glomerular filtration rate (GFR) in patients under long-term treatment. The biological systems and the genetic factors involved in susceptibility to Li-induced renal-side effects have been scarcely explored...
December 5, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27909897/nha2-is-expressed-in-distal-nephron-and-regulated-by-dietary-sodium
#14
Kalyan C Kondapalli, R Todd Alexander, Jennifer L Pluznick, Rajini Rao
Increased renal reabsorption of sodium is a significant risk factor in hypertension. An established clinical marker for essential hypertension is elevated sodium lithium countertransport (SLC) activity. NHA2 is a newly identified Na(+)(Li(+))/H(+) antiporter with potential genetic links to hypertension, which has been shown to mediate SLC activity and H(+)-coupled Na(+)(Li(+)) efflux in kidney-derived MDCK cells. To evaluate a putative role in sodium homeostasis, we determined the effect of dietary salt on NHA2...
December 1, 2016: Journal of Physiology and Biochemistry
https://www.readbyqxmd.com/read/27902761/tlr-2-recognizes-propionibacterium-acnes-camp-factor-1-from-highly-inflammatory-strains
#15
Coralie Lheure, Philippe Alain Grange, Guillaume Ollagnier, Philippe Morand, Nathalie Désiré, Sophie Sayon, Stéphane Corvec, Jöel Raingeaud, Anne-Geneviève Marcelin, Vincent Calvez, Amir Khammari, Frédéric Batteux, Brigitte Dréno, Nicolas Dupin
BACKGROUND: Propionibacterium acnes (P. acnes) is an anaerobic, Gram-positive bacteria encountered in inflammatory acne lesions, particularly in the pilosebaceous follicle. P. acnes triggers a strong immune response involving keratinocytes, sebocytes and monocytes, the target cells during acne development. Lipoteicoic acid and peptidoglycan induce the inflammatory reaction, but no P. acnes surface protein interacting with Toll-like receptors has been identified. P. acnes surface proteins have been extracted by lithium stripping and shown to induce CXCL8 production by keratinocytes...
2016: PloS One
https://www.readbyqxmd.com/read/27870504/chronic-licl-pretreatment-suppresses-thrombin-stimulated-intracellular-calcium-mobilization-through-trpc3-in-astroglioma-cells
#16
Takuji Uemura, Marty Green, Jerry J Warsh
OBJECTIVES: Transient receptor potential canonical type 3 (TRPC3) channels are activated in B lymphoblast cell lines from patients with bipolar disorder (BD), and its expression is reduced by chronic lithium treatment, implicating TRPC3 in the intracellular calcium (Ca(2+) ) dyshomeostasis of BD. Thrombin, via a protease-activated receptor, moderates Ca(2+) signaling and TRPC3 in astrocytes, and also cell proliferation. We examined whether lithium pretreatment attenuates thrombin-stimulated TRPC3 expression and function in astrocytes, and levels of the calcium-binding peptide, S100B, which is expressed mainly in these cells...
November 2016: Bipolar Disorders
https://www.readbyqxmd.com/read/27844061/lithium-responsive-seizure-like-hyperexcitability-is-caused-by-a-mutation-in-the-drosophila-voltage-gated-sodium-channel-gene-paralytic
#17
Garrett A Kaas, Junko Kasuya, Patrick Lansdon, Atsushi Ueda, Atulya Iyengar, Chun-Fang Wu, Toshihiro Kitamoto
Shudderer (Shu) is an X-linked dominant mutation in Drosophila melanogaster identified more than 40 years ago. A previous study showed that Shu caused spontaneous tremors and defects in reactive climbing behavior, and that these phenotypes were significantly suppressed when mutants were fed food containing lithium, a mood stabilizer used in the treatment of bipolar disorder (Williamson, 1982). This unique observation suggested that the Shu mutation affects genes involved in lithium-responsive neurobiological processes...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27750061/cross-validation-of-clinical-characteristics-and-treatment-patterns-associated-with-phenotypes-for-lithium-response-defined-by-the-alda-scale
#18
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...
January 15, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27732870/the-effects-of-reduced-dopamine-transporter-function-and-chronic-lithium-on-motivation-probabilistic-learning-and-neurochemistry-in-mice-modeling-bipolar-mania
#19
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...
February 2017: Neuropharmacology
https://www.readbyqxmd.com/read/27713059/bmp4-msx1-signaling-and-osr2-control-tooth-organogenesis-through-antagonistic-regulation-of-secreted-wnt-antagonists
#20
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...
December 1, 2016: Developmental Biology
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