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Lithium genetics

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https://www.readbyqxmd.com/read/27923663/pharmacogenetics-of-lithium-effects-on-glomerular-function-in-bipolar-disorder-patients-under-chronic-lithium-treatment-a-pilot-study
#1
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 show 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 3, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27909897/nha2-is-expressed-in-distal-nephron-and-regulated-by-dietary-sodium
#2
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
#3
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
#4
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
#5
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
#6
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
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27703793/gadl1-variant-and-medication-adherence-in-predicting-response-to-lithium-maintenance-treatment-in-bipolar-i-disorder
#9
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
https://www.readbyqxmd.com/read/27646265/pde11a-negatively-regulates-lithium-responsivity
#10
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
https://www.readbyqxmd.com/read/27633500/lithium-pharmacogenetics-where-do-we-stand
#11
REVIEW
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...
November 2016: Drug Development Research
https://www.readbyqxmd.com/read/27609245/postpartum-psychosis-madness-mania-and-melancholia-in-motherhood
#12
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...
December 1, 2016: American Journal of Psychiatry
https://www.readbyqxmd.com/read/27572669/the-changing-epidemiology-of-ebstein-s-anomaly-and-its-relationship-with-maternal-mental-health-conditions-a-european-registry-based-study
#13
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
https://www.readbyqxmd.com/read/27524797/pharmacologic-activation-of-wnt-signaling-by-lithium-normalizes-retinal-vasculature-in-a-murine-model-of-familial-exudative-vitreoretinopathy
#14
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
https://www.readbyqxmd.com/read/27524206/chronotype-and-circadian-rhythm-in-bipolar-disorder-a-systematic-review
#15
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
https://www.readbyqxmd.com/read/27479537/suicide-behavior-as-a-quantitative-trait-and-its-genetic-background
#16
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
https://www.readbyqxmd.com/read/27449518/rdna-copy-number-variants-are-frequent-passenger-mutations-in-saccharomyces-cerevisiae-deletion-collections-and-de-novo-transformants
#17
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...
September 8, 2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/27400920/development-of-a-sufficient-and-effective-procedure-for-transformation-of-an-oleaginous-yeast-rhodosporidium-toruloides-dmku3-tk16
#18
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
https://www.readbyqxmd.com/read/27344503/the-pilocarpine-model-of-temporal-lobe-epilepsy-marked-intrastrain-differences-in-female-sprague-dawley-rats-and-the-effect-of-estrous-cycle
#19
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
https://www.readbyqxmd.com/read/27339867/blood-pressure-arterial-stiffness-and-endogenous-lithium-clearance-in-relation-to-agtr1-a1166c-and-agtr2-g1675a-gene-polymorphisms
#20
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
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