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https://www.readbyqxmd.com/read/29141214/partitioning-of-one-carbon-units-in-folate-and-methionine-metabolism-is-essential-for-neural-tube-closure
#1
Kit-Yi Leung, Yun Jin Pai, Qiuying Chen, Chloe Santos, Enrica Calvani, Sonia Sudiwala, Dawn Savery, Markus Ralser, Steven S Gross, Andrew J Copp, Nicholas D E Greene
Abnormal folate one-carbon metabolism (FOCM) is implicated in neural tube defects (NTDs), severe malformations of the nervous system. MTHFR mediates unidirectional transfer of methyl groups from the folate cycle to the methionine cycle and, therefore, represents a key nexus in partitioning one-carbon units between FOCM functional outputs. Methionine cycle inhibitors prevent neural tube closure in mouse embryos. Similarly, the inability to use glycine as a one-carbon donor to the folate cycle causes NTDs in glycine decarboxylase (Gldc)-deficient embryos...
November 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/29134491/dpyd-2a-and-mthfr-c677t-predict-toxicity-and-efficacy-respectively-in-patients-on-chemotherapy-with-5-fluorouracil-for-colorectal-cancer
#2
Noor Ahmed Nahid, Mohd Nazmul Hasan Apu, Md Reazul Islam, Samia Shabnaz, Surid Mohammad Chowdhury, Maizbha Uddin Ahmed, Zabun Nahar, Md Siddiqul Islam, Mohammad Safiqul Islam, Abul Hasnat
BACKGROUND: Significant inter-individual variation in the sensitivity to 5-fluorouracil (5-FU) represents a major therapeutic hindrance either by impairing drug response or inducing adverse drug reactions (ADRs). This study aimed at exploring the cause behind this inter-individual alterations in consequences of 5-fluorouracil-based chemotherapy by investigating the effects of DPYD*2A and MTHFR C677T polymorphisms on toxicity and response of 5-FU in Bangladeshi colorectal cancer patients...
November 13, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/29130768/screening-of-six-polymorphisms-related-with-folate-metabolism-in-parents-of-individuals-with-down-syndrome
#3
Marly Balarin, Mariângela Cintra, Fernanda Cordeiro, Lucila Naves, Roseane Silva-Grecco
OBJECTIVE: The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents. METHODS: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS. The molecular analysis was performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) (Reaction Chain Polymerase Restriction Fragment Length Polymorphism) or Polymerase Chain Reaction (PCR)...
November 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29125573/tailoring-nutritional-advice-for-mexicans-based-on-prevalence-profiles-of-diet-related-adaptive-gene-polymorphisms
#4
Claudia Ojeda-Granados, Arturo Panduro, Karina Gonzalez-Aldaco, Maricruz Sepulveda-Villegas, Ingrid Rivera-Iñiguez, Sonia Roman
Diet-related adaptive gene (DRAG) polymorphisms identified in specific populations are associated with chronic disorders in carriers of the adaptive alleles due to changes in dietary and lifestyle patterns in recent times. Mexico's population is comprised of Amerindians (AM) and Mestizos who have variable AM, European (EUR) and African genetic ancestry and an increased risk of nutrition-related chronic diseases. Nutritional advice based on the Mexican genome and the traditional food culture is needed to develop preventive and therapeutic strategies...
November 10, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29117460/maternal-folic-acid-use-during-pregnancy-mthfr-polymorphism-and-child-s-lung-function-and-asthma
#5
Herman T den Dekker, Vincent W V Jaddoe, Irwin K Reiss, Johan C de Jongste, Liesbeth Duijts
BACKGROUND: Folic acid supplement use during pregnancy might affect childhood respiratory health, potentially mediated by methylenetetrahydrofolate-reductase polymorphism C677T (MTHFR-C677T) carriership. OBJECTIVES: We examined the associations of maternal folic acid supplement use and folate, vitamin B12 and homocysteine concentrations during pregnancy with childhood lung function and asthma. METHODS: This study was embedded in a population-based prospective cohort study among 5,653 children...
November 8, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29116059/genetic-predictors-associated-with-diabetic-retinopathy-in-diabetic-foot-patients-a-preliminary-study
#6
Beata Mrozikiewicz-Rakowska, Magdalena Łukawska, Piotr Nehring, Konrad Szymański, Agnieszka Sobczyk-Kopcioł, Monika Krzyżewska, Paweł Maroszek, Rafał Płoski, Leszek Czupryniak
INTRODUCTION    Early detection of diabetic retinopathy (DR) is key for preventing irreversible blindness. Recent research has identified some of the genetic factors involved in the pathology of DR, although their precise underlying mechanisms remain unclear. OBJECTIVES    This pilot study aimed to determine genetic predictors of DR among patients with type 2 diabetes mellitus (T2DM) and diabetic foot (DF) based on pathogenetic pathways. PATIENTS AND METHODS    The study was conducted on 114 patients with T2DM and DF (64 with DR, 50 without DR) treated in the Medical University of Warsaw...
November 7, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29115286/genetic-predictors-associated-with-diabetic-retinopathy-in-diabetic-foot-patients
#7
Beata Mrozikiewicz-Rakowska, Magdalena Łukawska, Piotr Nehring, Konrad Szymański, Agnieszka Sobczyk-Kopcioł, Monika Krzyżewska, Paweł Maroszek, Rafał Płoski, Leszek Czupryniak
INTRODUCTION: Early detection of diabetic retinopathy (DR) is key for preventing irreversible blindness. Recent research has identified some of the genetic factors involved in the pathology of DR, although their precise underlying mechanisms remain unclear. OBJECTIVES: This pilot study aimed to determine genetic predictors of DR among patients with type 2 diabetes mellitus (T2DM) and diabetic foot (DF) based on pathogenetic pathways. PATIENTS AND METHODS: The study was conducted on 114 patients with T2DM and DF (64 with DR, 50 without DR) treated in the Medical University of Warsaw...
November 7, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29115087/methylenetetrahydrofolate-reductase-polymorphisms-and-risk-of-recurrent-pregnancy-loss-a-case-control-study
#8
Kyu Ri Hwang, Young Min Choi, Jin Ju Kim, Sung Ki Lee, Kwang Moon Yang, Eun Chan Paik, Hyeon Jeong Jeong, Jong Kwan Jun, Sang Ho Yoon, Min A Hong
The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL)...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29114412/methylene-tetrahydrofolate-reductase-deficiency-the-hidden-risk-in-paediatric-anaesthesia
#9
Zeynep Nur Orhon, Emine Nursen Koltka, Sevil Tüfekçi, Çiğdem Buldağ, Alperen Kısa, Çiğdem Ulukaya Durakbaşa, Melek Çelik
Objective: Methylene tetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive disorder that results in increased homocysteine levels in the body. Hyperhomocysteinemia causes a predisposition to venous and arterial thrombosis and ischaemic insults. The incidence of the deficiency is around 40% in some countries. In this study, we aimed to evaluate the effects of anaesthetic agents in children with MTHFR deficiency. Methods: Twelve paediatric patients with an MTHFR enzyme deficiency who underwent surgery in a ten-month period in a single centre were retrospectively evaluated...
October 2017: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/29099150/expanded-carrier-screening-in-gamete-donors-of-venezuela
#10
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
November 3, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29097250/mthfr-c677t-and-a1298c-polymorphisms-may-contribute-to-the-risk-of-parkinson-s-disease-a-meta-analysis-of-19-studies
#11
Lijun Liu, Liang Zhang, Lei Guo, Qing Yu, Hong Li, Jijun Teng, Anmu Xie
The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been reported to be a candidate gene for susceptibility to Parkinson's disease (PD), but results of different studies are conflicting. Here, we conducted a meta-analysis of published case-control studies to evaluate the association between MTHFR C677T and A1298C gene polymorphisms with the risk of PD. Electronic search through PubMed, EmBase, ScienceDirect and Cochrane Library was conducted to identify all relevant studies. A total of 19 studies with 2746 cases and 8967 controls were included...
October 31, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#12
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
November 1, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29093435/recurrent-thrombosis-a-case-of-hereditary-thromboembolism
#13
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing...
November 2, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29089462/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-colorectal-cancer-susceptibility-a-meta-analysis
#14
Lingyan Xu, Zhiqiang Qin, Feng Wang, Shuhui Si, Lele Li, Peinan Lin, Xiao Han, Xiaomin Cai, Haiwei Yang, Yanhong Gu
BACKGROUND: The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and colorectal cancer (CRC) susceptibility has been researched in numerous studies. However, the results of these studies were controversial. Therefore, the objective of this meta-analysis was to offer a more convincible conclusion about such association with more included studies. METHODS: Eligible studies published till May 1st, 2017 were searched from PubMed, EMBASE, Web of Science and CNKI database about such association...
October 31, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29084233/genetically-defined-elevated-homocysteine-levels-do-not-result-in-widespread-changes-of-dna-methylation-in-leukocytes
#15
Pooja R Mandaviya, Roby Joehanes, Dylan Aïssi, Brigitte Kühnel, Riccardo E Marioni, Vinh Truong, Lisette Stolk, Marian Beekman, Marc Jan Bonder, Lude Franke, Christian Gieger, Tianxiao Huan, M Arfan Ikram, Sonja Kunze, Liming Liang, Jan Lindemans, Chunyu Liu, Allan F McRae, Michael M Mendelson, Martina Müller-Nurasyid, Annette Peters, P Eline Slagboom, John M Starr, David-Alexandre Trégouët, André G Uitterlinden, Marleen M J van Greevenbroek, Diana van Heemst, Maarten van Iterson, Philip S Wells, Chen Yao, Ian J Deary, France Gagnon, Bastiaan T Heijmans, Daniel Levy, Pierre-Emmanuel Morange, Melanie Waldenberger, Sandra G Heil, Joyce B J van Meurs
BACKGROUND: DNA methylation is affected by the activities of the key enzymes and intermediate metabolites of the one-carbon pathway, one of which involves homocysteine. We investigated the effect of the well-known genetic variant associated with mildly elevated homocysteine: MTHFR 677C>T independently and in combination with other homocysteine-associated variants, on genome-wide leukocyte DNA-methylation. METHODS: Methylation levels were assessed using Illumina 450k arrays on 9,894 individuals of European ancestry from 12 cohort studies...
2017: PloS One
https://www.readbyqxmd.com/read/29075332/hypermethylation-in-the-promoter-of-the-mthfr-gene-is-associated-with-diabetic-complications-and-biochemical-indicators
#16
Mayara Karla Dos Santos Nunes, Alexandre Sérgio Silva, Isabella Wanderley de Queiroga Evangelista, João Modesto Filho, Cecília Neta Alves Pegado Gomes, Rayner Anderson Ferreira do Nascimento, Rafaella Cristhine Pordeus Luna, Maria José de Carvalho Costa, Naila Francis Paulo de Oliveira, Darlene Camati Persuhn
BACKGROUND: DNA methylation is an epigenetic mechanism for regulating the transcription of many genes and has been linked to the development of various diseases. A promising gene to investigate is methylenetetrahydrofolate reductase (MTHFR), since the enzyme methylenetetrahydrofolate reductase (MTHFR) promotes methyl radical synthesis in the homocysteine cycle and can provide methyl groups for DNA methylation. In addition, several studies have correlated gene polymorphisms of this enzyme with a greater risk of diabetes, but little is known regarding the relationship between epigenetic changes in this gene and diabetes and its complications...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29073227/the-methylenetetrahydrofolate-reductase-c-c-677-c-t-and-c-c-1298-a-c-polymorphisms-in-reproductive-failures-experience-from-an-rsa-and-rif-study-on-a-polish-population
#17
Izabela Nowak, Aleksandra Bylińska, Karolina Wilczyńska, Andrzej Wiśniewski, Andrzej Malinowski, Jacek R Wilczyński, Paweł Radwan, Michał Radwan, Ewa Barcz, Rafał Płoski, Hanna Motak-Pochrzęst, Małgorzata Banasik, Maciej Sobczyński, Piotr Kuśnierczyk
Almost 1600 individuals from the Polish population were recruited to this study. Among them 319 were fertile couples, 289 were recurrent spontaneous abortion (RSA) couples, and 131 were in the group of recurrent implantation failure (RIF) following in vitro fertilization. The aim of this study was to evaluate the MTHFR c.c.677 C>T and c.c.1298 A>C polymorphisms' association with RSA and RIF. We used PCR-RFLP with HinfI (677 C>T) and MboII (1298 A>C) digestion. We observed a protective effect of the female AC genotype (OR = 0...
2017: PloS One
https://www.readbyqxmd.com/read/29072168/application-of-adaptive-neuro-fuzzy-inference-systems-anfis-to-delineate-estradiol-glutathione-and-homocysteine-interactions
#18
Iyyapu Krishna Mohan, Siraj Ahmed Khan, Rachel Jacob, Nooguri Sushma Chander, Tajamul Hussain, Salman A Alrokayan, Akella Radha Rama Devi, Shaik Mohammad Naushad
The rationale of the current study was to elucidate the contributing factors for the gender-based differences in total plasma homocysteine levels. A total of 413 subjects comprising of 293 men and 120 women were enrolled for the study. Chemiluminescence technology for vitamin B12, folate and total plasma homocysteine; ELISA for estradiol and 8-oxo-2-deoxyguanosine; Ellman's method for total glutathione; and PCR-RFLP analysis for the detection of methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism were employed...
August 2017: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29062354/vitamin-b6-and-homocysteine-levels-in-carbamazepine-treated-epilepsy-of-khyber-pakhtunkhwa
#19
Shakirullah Shakir, Niaz Ali, Zia Udin, Haleema Nazish, Muhammad Nabi
OBJECTIVES: The study focused on the plasma levels of vitamin B6 and homocysteine in different genotypes of MTHFR (C677T, A1298C) and GABRG2 (C588T, C315T) genes in carbamazepine resistant epilepsy in the population of Khyber Pakhtunkhwa. METHODOLOGY: Patients who were possible candidates for carbamazepine therapy were followed for six months for their seizure control. Plasma levels of vitamin B6 and homocysteine were determined using immunoassay based techniques at baseline and after six months...
June 2017: African Health Sciences
https://www.readbyqxmd.com/read/29062171/distribution-of-mthfr-c677t-gene-polymorphism-in-healthy-north-indian-population-and-an-updated-meta-analysis
#20
Upendra Yadav, Pradeep Kumar, Sanjay Gupta, Vandana Rai
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate pathway. Several polymorphisms were reported in MTHFR gene but C677T polymorphism is most studied and it has been reported to be risk factor for several diseases/disorders. The present study was designed to explore the frequency of MTHFR C677T polymorphism in North Indian healthy population. In addition to this a meta-analysis of published articles was also performed to estimate the global prevalence of MTHFR C677T polymorphism. A total of 1000 unrelated healthy subjects were selected for MTHFR C677T polymorphism analysis...
October 2017: Indian Journal of Clinical Biochemistry: IJCB
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