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catechol-o-methyltransferase

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https://www.readbyqxmd.com/read/28100326/-feeding-difficulty-and-developmental-delay-for-8-months-and-nystagmus-for-4-months-in-an-infant
#1
Jie Zhu, Fei Yu
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28096880/genetic-polymorphism-of-1019c-g-rs6295-promoter-of-serotonin-1a-receptor-and-catechol-o-methyltransferase-in-panic-disorder
#2
Takashi Watanabe, Shin Ishiguro, Akiko Aoki, Mikito Ueda, Yuki Hayashi, Kazufumi Akiyama, Kazuko Kato, Kazutaka Shimoda
OBJECTIVE: Family and twin studies have suggested genetic liability for panic disorder (PD) and therefore we sought to determine the role of noradrenergic and serotonergic candidate genes for susceptibility for PD in a Japanese population. METHODS: In this age- and gender-matched case-control study involving 119 PD patients and 119 healthy controls, we examined the genotype distributions and allele frequencies of the serotonin transporter gene linked polymorphic region (5-HTTLPR), -1019C/G (rs6295) promoter polymorphism of the serotonin receptor 1A (5-HT1A), and catechol-O-methyltransferase (COMT) gene polymorphism (rs4680) and their association with PD...
January 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28089731/investigation-of-polymorphisms-in-genes-involved-in-estrogen-metabolism-in-menstrual-migraine
#3
Heidi G Sutherland, Morgane Champion, Amelie Plays, Shani Stuart, Larisa M Haupt, Alison Frith, E Anne MacGregor, Lyn R Griffiths
Migraine is a common, disabling headache disorder, which is influenced by multiple genes and environmental triggers. After puberty, the prevalence of migraine in women is three times higher than in men and >50% of females suffering from migraine report a menstrual association, suggesting hormonal fluctuations can influence the risk of migraine attacks. It has been hypothesized that the drop in estrogen during menses is an important trigger for menstrual migraine. Catechol-O-methyltransferase (COMT) and Cytochrome P450 (CYP) enzymes are involved in estrogen synthesis and metabolism...
January 13, 2017: Gene
https://www.readbyqxmd.com/read/28088578/the-effect-of-long-term-hindlimb-unloading-on-the-expression-of-risk-neurogenes-encoding-elements-of-serotonin-dopaminergic-systems-and-apoptosis-comparison-with-the-effect-of-actual-spaceflight-on-mouse-brain
#4
E A Kulikova, V A Kulikov, N A Sinyakova, A V Kulikov, N K Popova
The study of spaceflight effects on the brain is technically complex concern; complicated by the problem of applying an adequate ground model. The most-widely used experimental model to study the effect of microgravity is the tail-suspension hindlimb unloading model; however, its compliance with the effect of actual spaceflight on the brain is still unclear. We evaluated the effect of one month hindlimb unloading on the expression of genes related to the brain neuroplasticity - brain neutotrophic factors (Gdnf, Cdnf), apoptotic factors (Bcl-xl, Bax), serotonin- and dopaminergic systems (5-HT2A, Maoa, Maob, Th, D1r, Comt), and compared the results with the data obtained on mice that spent one month in spaceflight on Russian biosatellite Bion-M1...
January 11, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28074437/aberrant-endometrial-dna-methylome-of-homeobox-a10-and-catechol-o-methyltransferase-in-endometriosis
#5
Fei Ji, Xinhua Yang, Yan He, Hui Wang, Aixingzi Aili, Yan Ding
PURPOSE: Differential methylation of both HOXA10 and catechol-O-methyltransferase (COMT) has been reported in different endometrium disorders, and the two genes are linked through the estrogen pathway. The current study investigates the DNA methylation of HOXA10 and COMT in ectopic and eutopic endometrial tissues and its correlation with and the occurrence of endometriosis in women from Xinjiang province in China. METHODS: In the current study, 120 patients with endometriosis were recruited from our hospital between January 2011 and June 2014...
January 10, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28068092/systematic-quantum-mechanical-region-determination-in-qm-mm-simulation
#6
Maria Karelina, Heather J Kulik
Hybrid quantum mechanical-molecular mechanical (QM/MM) simulations are widely used in enzyme simulation. Over ten convergence studies of QM/MM methods have revealed over the past several years that key energetic and structural properties approach asymptotic limits with only very large (ca. 500-1000 atom) QM regions. This slow convergence has been observed to be due in part to significant charge transfer between the core active site and surrounding protein environment, which cannot be addressed by improvement of MM force fields or the embedding method employed within QM/MM...
January 9, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28066708/right-inferior-frontal-cortex-activity-correlates-with-tolcapone-responsivity-in-problem-and-pathological-gamblers
#7
Andrew S Kayser, Taylor Vega, Dawn Weinstein, Jan Peters, Jennifer M Mitchell
Failures of self-regulation in problem and pathological gambling (PPG) are thought to emerge from failures of top-down control, reflected neurophysiologically in a reduced capacity of prefrontal cortex to influence activity within subcortical structures. In patients with addictions, these impairments have been argued to alter evaluation of reward within dopaminergic neuromodulatory systems. Previously we demonstrated that augmenting dopamine tone in frontal cortex via use of tolcapone, an inhibitor of the dopamine-degrading enzyme catechol-O-methyltransferase (COMT), reduced delay discounting, a measure of impulsivity, in healthy subjects...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28060209/catechol-o-methyltransferase-genotypes-and-parenting-influence-on-long-term-executive-functioning-after-moderate-to-severe-early-childhood-traumatic-brain-injury-an-exploratory-study
#8
Brad G Kurowski, Amery Treble-Barna, Huaiyu Zang, Nanhua Zhang, Lisa J Martin, Keith Owen Yeates, H Gerry Taylor, Shari L Wade
OBJECTIVES: To examine catechol-O-methyltransferase (COMT) rs4680 genotypes as moderators of the effects of parenting style on postinjury changes in parent behavior ratings of executive dysfunction following moderate to severe early childhood traumatic brain injury. SETTING: Research was conducted in an outpatient setting. PARTICIPANTS: Participants included children admitted to hospital with moderate to severe traumatic brain injury (n = 55) or orthopedic injuries (n = 70) between ages 3 and 7 years...
January 5, 2017: Journal of Head Trauma Rehabilitation
https://www.readbyqxmd.com/read/28049082/catechol-o-methyltransferase-val-108-158-met-polymorphism-affects-fronto-limbic-connectivity-during-emotional-processing-in-bipolar-disorder
#9
B Vai, M Riberto, S Poletti, I Bollettini, C Lorenzi, C Colombo, F Benedetti
Catechol-O-methyltransferase (COMT) inactivates catecholamines, Val/Val genotype was associated to an increased amygdala (Amy) response to negative stimuli and can influence the symptoms severity and the outcome of bipolar disorder, probably mediated by the COMT polymorphism (rs4680) interaction between cortical and subcortical dopaminergic neurotransmission. The aim of this study is to explore how rs4680 and implicit emotional processing of negative emotional stimuli could interact in affecting the Amy connectivity in bipolar depression...
December 30, 2016: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28032000/reduced-brain-activation-during-inhibitory-control-in-children-with-comt-val-val-genotype
#10
Lora M Cope, Jillian E Hardee, Mary E Soules, Margit Burmeister, Robert A Zucker, Mary M Heitzeg
INTRODUCTION: Behavioral undercontrol is a well-established risk factor for substance use disorder, identifiable at an early age well before the onset of substance use. However, the biological mechanistic structure underlying the behavioral undercontrol/substance use relationship is not well understood. The enzyme catechol O-methyltransferase (COMT) catabolizes dopamine and norepinephrine in the prefrontal cortex and striatum, brain regions involved in behavioral control. The goal of this work was to investigate the association between genetic variation in COMT functioning and fronto-striatal brain functioning during successful inhibitory control, a critical aspect of behavioral control...
December 2016: Brain and Behavior
https://www.readbyqxmd.com/read/28031430/metabolic-disposition-of-luteolin-is-mediated-by-the-interplay-of-udp-glucuronosyltransferases-and-catechol-o-methyltransferases-in-rats
#11
Liping Wang, Qingwei Chen, Lijun Zhu, Qiang Li, Xuejun Zeng, Linlin Lu, Ming Hu, Xinchun Wang, Zhongqiu Liu
Luteolin partialy exerts its biological effects via its metabolites catalyzed by UDP-glucuronosyltransferases (UGTs) and catechol-O-methyltransferases (COMTs). However, the interplay of UGTs and COMTs in mediating luteolin disposition has not been well clarified. In this study, we investigated the glucuronidation and methylation pathways of luteolin mediated by the interplay of UGTs and COMTs in vivo and in vitro A total of nine luteolin metabolites were detected in rat plasma and bile by liquid chromatography - tandem mass spectrometry, namely, three glucuronides, two methylated metabolites, and four methylated glucuronides...
December 28, 2016: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/28027332/opicapone-as-adjunct-to-levodopa-therapy-in-patients-with-parkinson-disease-and-motor-fluctuations-a-randomized-clinical-trial
#12
Andrew J Lees, Joaquim Ferreira, Olivier Rascol, Werner Poewe, José-Francisco Rocha, Michelle McCrory, Patricio Soares-da-Silva
Importance: Catechol O-methyltransferase (COMT) inhibitors are an established treatment for end-of-dose motor fluctuations associated with levodopa therapy in patients with Parkinson disease (PD). Current COMT inhibitors carry a high risk for toxic effects to hepatic cells or show moderate improvement. Opicapone was designed to be effective without the adverse effects. Objective: To evaluate the efficacy and safety of 25- and 50-mg/d dosages of opicapone compared with placebo as adjunct to levodopa therapy in patients with PD experiencing end-of-dose motor fluctuations...
December 27, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/28018753/genetic-determinants-of-swallowing-impairment-recovery-and-responsiveness-to-treatment
#13
REVIEW
Alicja Raginis-Zborowska, Neil Pendleton, Shaheen Hamdy
PURPOSE OF REVIEW: Here we review the latest literature and evidence in the field of genetics and determinants of swallowing and its treatments-specifically, this is a very recent concept in the field of oropharyngeal dysphagia, with only now an emerging research interest in the relationship between our genetic makeup and the effect this has on swallowing function and dysfunction. As such our review will look at preclinical, clinical and hypothesis generating research covering all aspects of the genetics of swallowing, giving new importance to the genotype-phenotype influences pertaining to dysphagia and its recovery...
2016: Current Physical Medicine and Rehabilitation Reports
https://www.readbyqxmd.com/read/27998194/use-of-monoamine-oxidase-inhibitors-in-chronic-neurodegeneration
#14
Peter Riederer, Thomas Müller
Neurotransmission by biogenic monoamines is important for brain function. Biogenic amine turnover employs the enzymes catechol-O-methyltransferase and monoamine oxidase in neuronal and glial cells. Inhibition of these enzymes elevates biogenic amine levels in the synaptic cleft. Subtype selectivity of inhibition is lost during long-term use of 'selective' monoamine oxidase inhibitors. Areas covered: This narrative review discusses use of monoamine oxidase inhibitors in the context with chronic neurodegeneration...
February 2017: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/27989490/paraphilic-sexual-offenders-do-not-differ-from-control-subjects-with-respect-to-dopamine-and-serotonin-related-genetic-polymorphisms
#15
Andrzej Jakubczyk, Aleksandra Krasowska, Marcin Bugaj, Maciej Kopera, Anna Klimkiewicz, Agata Łoczewska, Aneta Michalska, Aleksandra Majewska, Natalia Szejko, Anna Podgórska, Małgorzata Sołowiej, Leszek Markuszewski, Sławomir Jakima, Rafał Płoski, Kirk Brower, Marcin Wojnar
INTRODUCTION: Rape and pedophilic child molestation are the most commonly convicted sexual offenses in Poland. Recent studies have suggested a possible genetic contribution toward pathologic sexual interests and behaviors. AIM: To analyze and compare functional polymorphisms of genes associated with the activity of the serotonin and dopamine systems in a group of paraphilic sexual offenders and control subjects. METHODS: The study sample (n = 97) consisted of two groups: paraphilic sexual offenders (65 pedophilic child molesters and 32 rapists) and controls (n = 76)...
December 15, 2016: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/27987399/association-between-cerebrospinal-fluid-dopamine-concentrations-and-catechol-o-methyltransferase-gene-polymorphisms-in-forensic-autopsy-cases-of-methamphetamine-abusers
#16
Aya Matsusue, Takaki Ishikawa, Tomomi Michiue, Brian Waters, Kenji Hara, Masayuki Kashiwagi, Mio Takayama, Natsuki Ikematsu, Shin-Ichi Kubo
Methamphetamine (MA) is an illicit psychostimulant that stimulates the release of catecholamines from sympathetic nerve terminals and is widely abused worldwide. Since catechol-O-methyltransferase (COMT) metabolizes catecholamines and mediates adrenergic, noradrenergic, and dopaminergic signaling responses, we investigated the effects of the COMT polymorphisms rs4633 and rs4680 on cerebrospinal fluid (CSF) catecholamine concentrations in autopsies of subjects who died of drug intoxication. 28 MA abusers and 22 fatal psychotropic drug intoxication cases were evaluated...
December 9, 2016: Forensic Science International
https://www.readbyqxmd.com/read/27983768/association-of-maternal-and-infant-variants-in-pnoc-and-comt-genes-with-neonatal-abstinence-syndrome-severity
#17
Elisha M Wachman, Marie J Hayes, Richard Sherva, Mark S Brown, Hira Shrestha, Beth A Logan, Nicole A Heller, David A Nielsen, Lindsay A Farrer
BACKGROUND AND OBJECTIVES: There is significant variability in severity of neonatal abstinence syndrome (NAS) due to in utero opioid exposure. Our previous study identified single nucleotide polymorphisms (SNPs) in the prepronociceptin (PNOC) and catechol-O-methyltransferase (COMT) genes that were associated with differences in NAS outcomes. This study looks at the same SNPs in PNOC and COMT in an independent cohort in an attempt to replicate previous findings. METHODS: For the replication cohort, full-term opioid-exposed newborns and their mothers (n = 113 pairs) were studied...
January 2017: American Journal on Addictions
https://www.readbyqxmd.com/read/27981425/-1-h-15-n-13-c-backbone-resonance-assignments-of-human-soluble-catechol-o-methyltransferase-in-complex-with-s-adenosyl-l-methionine-and-3-5-dinitrocatechol
#18
Sylwia Czarnota, Nicola J Baxter, Matthew J Cliff, Jonathan P Waltho, Nigel S Scrutton, Sam Hay
Catechol O-methyltransferase (COMT) is an enzyme that plays a major role in catechol neurotransmitter deactivation. Inhibition of COMT can increase neurotransmitter levels, which provides a means of treatment for Parkinson's disease, schizophrenia and depression. COMT exists as two isozymes: a soluble cytoplasmic form (S-COMT), expressed in the liver and kidneys and a membrane-bound form (MB-COMT), found mostly in the brain. Here we report the backbone (1)H, (15)N and (13)C chemical shift assignments of S-COMT in complex with S-adenosyl-L-methionine, 3,5-dinitrocatechol and Mg(2+)...
December 15, 2016: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/27939670/identification-and-characterization-of-a-catechol-o-methyltransferase-cdna-in-the-catfish-heteropneustes-fossilis-tissue-sex-and-seasonal-variations-and-effects-of-gonadotropin-and-2-hydroxyestradiol-17%C3%AE-on-mrna-expression
#19
R Chaube, A Rawat, R M Inbaraj, J Bobe, Y Guiguen, A Fostier, K P Joy
Catechol-O-methyltransferase (COMT) is involved in the methylation and inactivation of endogenous and xenobiotic catechol compounds, and serves as a common biochemical link in the catecholamine and catecholestrogen metabolism. Studies on cloning, sequencing and function characterization comt gene in lower vertebrates like fish are fewer. In the present study, a full-length comt cDNA of 1442bp with an open-reading frame (ORF) of 792bp, and start codon (ATG) at nucleotide 162 and stop codon (TAG) at nucleotide 953 was isolated and characterized in the stinging catfish Heteropneustes fossilis (accession No...
December 8, 2016: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/27930497/the-comt-val158met-polymorphism-is-associated-with-response-to-add-on-dextromethorphan-treatment-in-bipolar-disorder
#20
Sheng-Yu Lee, Shiou-Lan Chen, Tzu-Yun Wang, Yun-Hsuan Chang, Po See Chen, San-Yuan Huang, Nian-Sheng Tzeng, Liang-Jen Wang, I Hui Lee, Kao Ching Chen, Yen Kuang Yang, Ru-Band Lu
PURPOSE/BACKGROUND: We previously conducted a randomized, double-blind, controlled, 12-week study evaluating the effect of add-on dextromethorphan (DM), a noncompetitive N-methyl-D-aspartate receptor antagonist, on patients with bipolar disorder (BD) treated using valproate (VPA), which showed negative clinical differences. The genetic variation between each individual may be responsible for interindividual differences. The catechol-O-methyltransferase (COMT) gene has been a candidate gene for BD...
February 2017: Journal of Clinical Psychopharmacology
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