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methyl tetrahydrofolate reductase

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https://www.readbyqxmd.com/read/29512407/the-association-of-genotype-polymorphisms-with-vascular-access-patency-in-hemodialysis-patients
#1
Chun-Fan Chen, Chih-Ching Lin
Some hemodialysis patients suffer from repeat dysfunction of dialysis vascular access and need procedures of angioplasty, thrombectomy, and even temporary catheter use. Why these patients are vulnerable to vascular access dysfunction and how to improve its patency are imperative to be discovered. Traditional risk factors for vascular access function had been widely investigated but could not fully explain this question. Several genotype polymorphisms were demonstrated to increase the incidence of cardiovascular disease and might also be linked to higher risk of vascular access dysfunction...
February 1, 2018: Journal of Vascular Access
https://www.readbyqxmd.com/read/29329322/methylene-tetrahydrofolate-reductase-contributes-to-allergic-airway-disease
#2
Kenneth R Eyring, Brent S Pedersen, Kenneth N Maclean, Sally P Stabler, Ivana V Yang, David A Schwartz
RATIONALE: Environmental exposures strongly influence the development and progression of asthma. We have previously demonstrated that mice exposed to a diet enriched with methyl donors during vulnerable periods of fetal development can enhance the heritable risk of allergic airway disease through epigenetic changes. There is conflicting evidence on the role of folate (one of the primary methyl donors) in modifying allergic airway disease. OBJECTIVES: We hypothesized that blocking folate metabolism through the loss of methylene-tetrahydrofolate reductase (Mthfr) activity would reduce the allergic airway disease phenotype through epigenetic mechanisms...
2018: PloS One
https://www.readbyqxmd.com/read/29259859/mthfr-promoter-hypermethylation-may-lead-to-congenital-heart-defects-in-down-syndrome
#3
Ambreen Asim, Sarita Agarwal, Inusha Panigrahi, Nazia Saiyed, Sonal Bakshi
Altered global methylation levels revealed LINE-1 methylation in young mothers of Down syndrome (DS) compared to controls suggesting the possibility of impaired DNA methylation causing abnormal segregation of chromosome 21. Methylene Tetrahydrofolate Reductase (MTHFR) is one of the major enzymes of the folate metabolism pathway. MTHFR gene polymorphism has been associated with maternal risk for DS. Studies have revealed that increased MTHFR promoter methylation results in the reduction of MTHFR protein activity further leading to increased risk of various diseases...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28566152/sonographic-evaluation-of-atherosclerosis-burden-in-carotid-arteries-of-ischemic-stroke-patients-and-its-relation-to-paraoxonase-1-and-2-mthfr-and-at1r-genetic-variants
#4
Carmen Rosa Hernández-Socorro, Francisco Javier Rodríguez-Esparragón, Jennifer Celli, Juan Carlos López-Fernández
OBJECTIVE: Common variants of the Paraoxonase (PON), 5-Methyl-Tetrahydrofolate-Reductase (MTHFR) and Angiotensin-II receptor 1 (AT1R) genes have been associated with ischemic stroke (IS) risk. Moreover, carotid atherosclerosis is a common cause of IS. The aim of this study is to explore whether variants in these genes associate with the severity of ultrasonographic determined atherosclerosis assessed in carotid arteries. PATIENTS AND METHODS: Etiologic subtype of cerebral ischemia was determined according to the TOAST classification...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28514598/the-communal-relation-of-mthfr-mtr-ace-gene-polymorphisms-and-hyperhomocysteinemia-as-conceivable-risk-of-coronary-artery-disease
#5
Rizwan Masud, Haider Zaigham Baqai
Homocysteine and its modulating genes have strongly emerged as novel biomarkers for coronary artery disease (CAD). In the present study, we investigated whether polymorphisms in homocysteine pathway genes and the plasma levels of homocysteine, folate, and vitamin B12, independently or in combination, are associated with CAD risk. A total of 504 participants were recruited (cases, n = 254; controls, n = 250, respectively). Tetra primer allele refractory mutation system polymerase chain reaction (PCR) was used for resolving the genotypes of 5'10' methylenetetrahydrofolate reductase 'MTHFR' polymorphisms (rs1801133, rs1801131), 5' methyl tetrahydrofolate homocysteine methyltransferase 'MTR' polymorphism (rs1805087), paroxanse1 'PON1' polymorphism (rs662), and cystathionine beta synthase 'CBS' polymorphism (rs5742905)...
October 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28436623/mthfr-methylation-moderates-the-impact-of-smoking-on-dna-methylation-at-ahrr-for-african-american-young-adults
#6
Steven R H Beach, Man Kit Lei, Mei Ling Ong, Gene H Brody, Meeshanthini V Dogan, Robert A Philibert
Smoking has been shown to have a large, reliable, and rapid effect on demethylation of AHRR, particularly at cg05575921, suggesting that methylation may be used as an index of cigarette consumption. Because the availability of methyl donors may also influence the degree of demethylation in response to smoking, factors that affect the activity of methylene tetrahydrofolate reductase (MTHFR), a key regulator of methyl group availability, may be of interest. In the current investigation, we examined the extent to which individual differences in methylation of MTHFR moderated the association between smoking and demethylation at cg05575921 as well as at other loci on AHRR associated with a main effect of smoking...
September 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28369960/chronic-alcohol-exposure-differentially-alters-one-carbon-metabolism-in-rat-liver-and-brain
#7
James Auta, Huaibo Zhang, Subhash C Pandey, Alessandro Guidotti
BACKGROUND: Epigenetic mechanisms such as DNA methylation play an important role in regulating the pathophysiology of alcoholism. Chronic alcohol exposure leads to behavioral changes as well as decreased expression of genes associated with synaptic plasticity. In the liver, it has been documented that chronic alcohol exposure impairs methionine synthase (Ms) activity leading to a decrease in S-adenosyl methionine/S-adenosyl homocysteine (SAM/SAH) ratio which results in DNA hypomethylation; however, it is not known whether similar alterations of SAM and SAH levels are also produced in brain...
June 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27881965/fundamental-role-of-methylenetetrahydrofolate-reductase-677-c%C3%A2-%C3%A2-%C3%A2-t-genotype-and-flavin-compounds-in-biochemical-phenotypes-for-schizophrenia-and-schizoaffective-psychosis
#8
Stephanie Fryar-Williams
The Mental Health Biomarker Project (2010-2016) explored variables for psychosis in schizophrenia and schizoaffective disorder. Blood samples from 67, highly characterized symptomatic cases and 67 gender and age matched control participants were analyzed for methyl tetrahydrofolate reductase (MTHFR) 677C → T gene variants and for vitamin B6, B12 and D, folate, unbound copper, zinc cofactors for enzymes in the methylation cycle, and related catecholamine pathways. Urine samples were analyzed for indole-catecholamines, their metabolites, and oxidative-stress marker, hydroxylpyrolline-2-one (HPL)...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/26535623/mthfr-c677t-and-a1298c-polymorphisms-as-predictors-of-radiotherapy-response-in-head-and-neck-squamous-cell-carcinoma
#9
Q S Anders, E Stur, L P Agostini, F M Garcia, R S Reis, J A Santos, S O Mendes, L L Maia, G T Peterle, V Stange, M B Carvalho, E H Tajara, M Santos, A M A Silva-Conforti, I D Louro
The C677T and A1298C polymorphisms in methylene-tetrahydrofolate reductase (MTHFR), which regulates the release of active folate in the body, may have reduced activity. Given that folate participates in important intracellular pathways, such as nucleotide synthesis and biomolecule methylation, it seems plausible that patients with head and neck squamous cell carcinoma (HNSCC) may respond differently to radiotherapy treatments, based on genetic polymor-phisms. Therefore, this study sought to understand the role of these polymorphisms in HNSCC patient radiotherapy response...
2015: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/26450530/fetal-val108-158met-catechol-o-methyltransferase-comt-polymorphism-and-placental-comt-activity-are-associated-with-the-development-of-preeclampsia
#10
Miriam Pertegal, Francisco J Fenoy, Moisés Hernández, Jaime Mendiola, Juan L Delgado, Bárbara Bonacasa, Andrés Corno, Bernardo López, Vicente Bosch, Isabel Hernández
OBJECTIVE: To evaluate the association between fetal and maternal catechol-O-methyltransferase (COMT) Val158Met and methyl tetrahydrofolate reductase (MTHFR) C677T functional polymorphisms and preeclampsia, examining its influence on placental COMT and in maternal 2-methoxyestradiol (2-ME) plasma levels. DESIGN: Prospective case-control study. SETTING: University hospital. PATIENT(S): A total of 53 preeclamptic and 72 normal pregnant women...
January 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/26289647/multidisciplinary-approach-and-anesthetic-management-of-a-surgical-cancer-patient-with-methylene-tetrahydrofolate-reductase-deficiency-a-case-report-and-review-of-the-literature
#11
REVIEW
Marco Cascella, Marco Mc Cascella, Manuela Arcamone, Manuela Ma Arcamone, Emanuela Morelli, Emanuela Em Morelli, Daniela Viscardi, Daniela Dv Viscardi, Viera Russo, Viera Vr Russo, Silvia De Franciscis, Silvia Sdf De Franciscis, Andrea Belli, Andrea Ab Belli, Rosanna Accardo, Rosanna Ra Accardo, Domenico Caliendo, Domenico Dc Caliendo, Elena De Luca, Elena Edl De Luca, Barbara Di Caprio, Barbara Bdc Di Caprio, Francesco Di Sauro, Francesco Fds Di Sauro, Giovanni Giannoni, Giovanni Gg Giannoni, Carmine Iermano, Carmine Ci Iermano, Maria Maciariello, Maria Mm Maciariello, Marcella Marracino, Marcella Mm Marracino, Arturo Cuomo, Arturo Ac Cuomo
INTRODUCTION: Hyperhomocysteinemia is a known risk factor for myocardial infarction, stroke, peripheral vascular disease, and thrombosis. Elevated plasma homocysteine levels have been demonstrated in patients with recurrent episodes or a single episode of thrombosis. Here we describe the development of cardiovascular disease as a complication of a surgical intervention in a patient with colorectal cancer and hyperhomocysteinemia. CASE PRESENTATION: A 65-year-old Caucasian man complained of pain and constipation, attributed to previously diagnosed adenocarcinoma (stage IIB) of the hepatic flexure...
2015: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/26105327/pp004-study-of-the-methylenetetrahydrofolate-reductase-and-the-reduced-folate-carrier-1-gene-polymorphism-in-healthy-and-severe-pre-eclamptic-patients
#12
G Szabó, L Lazar, B Nagy, J Rigo
INTRODUCTION: One-carbon cycle is involved in two essential physiological processes: The synthesis of purins and pyrimidines required for DNA synthesis and repair. The other is the methylation with the methionine cycle. These one-carbon groups are served by the tetrahydrofolate and the S-adenosylmethionine. Deficiencies of the folate, or other abnormalities within the methionine pathway lead to elevated homocysteine levels. These disorders have been implicated in placental diseases. Earlier studies have shown that homocysteine levels are elevated by patients with severe pre-eclampsia than by healthy pregnant normotensive women...
July 2012: Pregnancy Hypertension
https://www.readbyqxmd.com/read/26089610/association-of-aberrations-in-one-carbon-metabolism-with-intimal-medial-thickening-in-patients-with-type-2-diabetes-mellitus
#13
R Dhananjayan, T Malati, Y Rupasree, Vijay Kumar Kutala
The present work was aimed to study the association of one carbon genetic variants, hyperhomocysteinemia and oxidative stress markers, i.e., serum nitrite, plasma malondialdehyde (MDA) and glutathione (GSH) on intimal medial thickening (IMT) in patients with type 2 diabetes mellitus (T2D). A total number of 76 subjects from ACS Medical College and Hospital, Chennai, India were included in the study, i.e., Group I (n = 42) of T2D and Group II (n = 34) of age- and sex matched healthy controls. The glycated haemoglobin was measured by ion-exchange resin method; plasma homocysteine by Enzyme Linked Immunosorbant Assay method; serum nitrite (nitric oxide, NO), plasma MDA and GSH by spectrophotometric methods; the IMT by high frequency ultrasound...
July 2015: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/26057816/structure-activity-correlations-for-three-pyrido-2-3-d-pyrimidine-antifolates-binding-to-human-and-pneumocystis-carinii-dihydrofolate-reductase
#14
Vivian Cody, Jim Pace, Ojas A Namjoshi, Aleem Gangjee
To further define the interactions that enhance the selectivity of binding and to directly compare the binding of the most potent analogue {N(6)-methyl-N(6)-(3,4,5-trifluorophenyl)pyrido[2,3-d]pyrimidine-2,4,6-triamine; compound 26} in the series of bicyclic pyrido[2,3-d]pyrimidine analogues of piritrexim (PTX) with native human (h), Pneumocystis carinii (pc) and Pneumocystis jirovecii (pj) dihydrofolate reductase (DHFR) enzymes, the crystal structures of hDHFR complexed with N(6)-methyl-N(6)-(4-isopropylphenyl)pyrido[2,3-d]pyrimidine-2,4,6-triamine (compound 22), of hDHFR complexed with compound 26 and of pcDHFR complexed with N(6)-methyl-N(6)-1-naphthylpyrido[2,3-d]pyrimidine-2,4,6-triamine (compound 24) are reported as ternary complexes with NADPH...
June 2015: Acta Crystallographica. Section F, Structural Biology Communications
https://www.readbyqxmd.com/read/25982410/protein-synthesis-with-ribosomes-selected-for-the-incorporation-of-%C3%AE-amino-acids
#15
Rumit Maini, Sandipan Roy Chowdhury, Larisa M Dedkova, Basab Roy, Sasha M Daskalova, Rakesh Paul, Shengxi Chen, Sidney M Hecht
In an earlier study, β³-puromycin was used for the selection of modified ribosomes, which were utilized for the incorporation of five different β-amino acids into Escherichia coli dihydrofolate reductase (DHFR). The selected ribosomes were able to incorporate structurally disparate β-amino acids into DHFR, in spite of the use of a single puromycin for the selection of the individual clones. In this study, we examine the extent to which the structure of the β³-puromycin employed for ribosome selection influences the regio- and stereochemical preferences of the modified ribosomes during protein synthesis; the mechanistic probe was a single suppressor tRNA(CUA) activated with each of four methyl-β-alanine isomers (1-4)...
June 16, 2015: Biochemistry
https://www.readbyqxmd.com/read/25733614/heterotrimeric-nadh-oxidizing-methylenetetrahydrofolate-reductase-from-the-acetogenic-bacterium-acetobacterium-woodii
#16
Johannes Bertsch, Christian Öppinger, Verena Hess, Julian D Langer, Volker Müller
UNLABELLED: The methylenetetrahydrofolate reductase (MTHFR) of acetogenic bacteria catalyzes the reduction of methylene-THF, which is highly exergonic with NADH as the reductant. Therefore, the enzyme was suggested to be involved in energy conservation by reducing ferredoxin via electron bifurcation, followed by Na(+) translocation by the Rnf complex. The enzyme was purified from Acetobacterium woodii and shown to have an unprecedented subunit composition containing the three subunits RnfC2, MetF, and MetV...
May 2015: Journal of Bacteriology
https://www.readbyqxmd.com/read/25703118/insights-into-the-slow-onset-tight-binding-inhibition-of-escherichia-coli-dihydrofolate-reductase-detailed-mechanistic-characterization-of-pyrrolo-3-2-f-quinazoline-1-3-diamine-and-its-derivatives-as-novel-tight-binding-inhibitors
#17
Bharath Srinivasan, Jeffrey Skolnick
Dihydrofolate reductase (DHFR) is a pivotal enzyme involved in the de novo pathway of purine synthesis, and hence, represents an attractive target to disrupt systems that require rapid DNA turnover. The enzyme acquires resistance to available drugs by various molecular mechanisms, which necessitates the continuous discovery of novel antifolates. Previously, we identified a set of novel molecules that showed binding to E. coli DHFR by means of a thermal shift without establishing whether they inhibited the enzyme...
May 2015: FEBS Journal
https://www.readbyqxmd.com/read/25568832/customized-nutritional-enhancement-for-pregnant-women-appears-to-lower-incidence-of-certain-common-maternal-and-neonatal-complications-an-observational-study
#18
Leslie P Stone, P Michael Stone, Emily A Rydbom, Lucas A Stone, T Elliot Stone, Lindsey E Wilkens, Kathryn Reynolds
A retrospective chart review analyzed the effect of customized nutrition on the incidence of pregnancy-induced hypertension (PIH), gestational diabetes (GDM), and small- and large-for-gestational-age (SGA, LGA) neonates, examining consecutive deliveries between January 1, 2011, and Decem ber 31, 2012, at a low-risk community hospital. The population was divided into 3 groups: (1) study group (SG), (2) private practice (PP), and (3) community healthcare clinic (CHCC). All groups received standard perinatal management, but additionally the study group was analyzed for serum zinc, carnitine, total 25-hydroxy cholecalciferol (25 OH-D), methylene tetrahydrofolate reductase, and catechol-O-methyl transferase polymorphisms in the first trimester prior to intervention, with subsequent second trimester and postpartum assessment of zinc, carnitine, and 25 OH-D after intervention...
November 2014: Global Advances in Health and Medicine: Improving Healthcare Outcomes Worldwide
https://www.readbyqxmd.com/read/25003120/expression-of-genes-encoding-enzymes-involved-in-the-one-carbon-cycle-in-rat-placenta-is-determined-by-maternal-micronutrients-folic-acid-vitamin-b12-and-omega-3-fatty-acids
#19
Vinita Khot, Anvita Kale, Asmita Joshi, Preeti Chavan-Gautam, Sadhana Joshi
We have reported that folic acid, vitamin B12, and omega-3 fatty acids are interlinked in the one carbon cycle and have implications for fetal programming. Our earlier studies demonstrate that an imbalance in maternal micronutrients influence long chain polyunsaturated fatty acid metabolism and global methylation in rat placenta. We hypothesize that these changes are mediated through micronutrient dependent regulation of enzymes in one carbon cycle. Pregnant dams were assigned to six dietary groups with varying folic acid and vitamin B12 levels...
2014: BioMed Research International
https://www.readbyqxmd.com/read/24991041/neither-folic-acid-supplementation-nor-pregnancy-affects-the-distribution-of-folate-forms-in-the-red-blood-cells-of-women
#20
COMPARATIVE STUDY
Brenda A Hartman, Zia Fazili, Christine M Pfeiffer, Deborah L O'Connor
It is not known whether folate metabolism is altered during pregnancy to support increased DNA and RNA biosynthesis. By using a state-of-the-art LC tandem mass spectrometry technique, the aim of this study was to investigate differences in RBC folate forms between pregnant and nonpregnant women and between nonpregnant women consuming different concentrations of supplemental folic acid. Forms of folate in RBCs were used to explore potential shifts in folate metabolism during early erythropoiesis. Total RBC folate and folate forms [tetrahydrofolate; 5-methyltetrahydrofolate (5-methyl-THF); 4α-hydroxy-5-methyl-tetrahydrofolate (an oxidation product of 5-methyl-THF); 5-formyl-tetrahydrofolate; and 5,10-methenyl-tetrahydrofolate] were measured in 4 groups of women (n = 26): pregnant women (PW) (30-36 wk of gestation) consuming 1 mg/d of folic acid, and nonpregnant women consuming 0 mg/d (NPW-0), 1 mg/d (NPW-1), and 5 mg/d (NPW-5) folic acid...
September 2014: Journal of Nutrition
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