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https://www.readbyqxmd.com/read/29762928/early-thrombosis-of-a-mitral-annuloplasty-ring-in-a-patient-with-mthfr-and-factor-v-leiden-mutations
#1
Sinan Cerşit, Emrah Bayam, Sabahattin Gündüz, Mehmet Özkan
Mitral annuloplasty ring thrombosis is an extremely infrequent pathology, for which no evidence-based antithrombotic management has yet been described. Herein is presented a case of heterozygous Factor V Leiden (FVL) and hyperhomocysteinemia with homozygous methylenetetrahydrofolate reductase (MTHFR) mutations that caused early thrombosis of the mitral annuloplasty ring. The clinical management and antithrombotic treatment of the patient, and the implications of hyperhomocysteinemia, are discussed. Video 1: Mobile 9-mm thrombus of mitral annuloplasty ring on two-dimensional (2D) transesophageal echocardiography...
September 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29736261/choroidal-infarction-following-ophthalmic-artery-chemotherapy
#2
Kelley J Bohm, Y Pierre Gobin, Jasmine H Francis, Gabrielle McInerney, Anahita Dabo-Trubelja, Paul H Dalecki, Brian P Marr, David H Abramson
Background: Methylenetetrahydrofolate reductase (MTHFR) genetic mutations and intra-procedural inhaled nitrous oxide (N2 O) independently increase blood levels of homocysteine, a compound associated with thrombosis. Patients with MTHFR mutations who also receive N2 O during ophthalmic artery chemotherapy (OAC) for retinoblastoma may have a heightened thrombotic risk. Case presentations: Single-center retrospective review of pediatric patients with advanced retinoblastoma who received OAC and developed choroidal infarcts...
2018: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/29703881/the-association-of-factor-v-g1961a-factor-v-leiden-prothrombin-g20210a-mthfr-c677t-and-pai-1-4g-5g-polymorphisms-with-recurrent-pregnancy-loss-in-bosnian-women
#3
Amela Jusić, Devleta Balić, Aldijana Avdić, Maja Pođanin, Adem Balić
Aim To investigate association of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 4G/5G polymorphisms with recurrent pregnancy loss in Bosnian women. Methods A total of 60 women with two or more consecutive miscarriages before 20 weeks of gestation with the same partners and without history of known causes or recurrent pregnancy loss were included. A control group included 80 healthy women who had one or more successful pregnancies without history of any complication which could be associated with miscarriages...
August 1, 2018: Medicinski Glasnik
https://www.readbyqxmd.com/read/29700634/frequency-of-pathogenic-germline-mutations-in-cancer-susceptibility-genes-in-breast-cancer-patients
#4
Raman Preet Kaur, Gowhar Shafi, Raja Paramjeet Singh Benipal, Anjana Munshi
In this study, we evaluated the incidence of pathogenic germline mutations in 30 breast cancer susceptibility genes in breast cancer patients. Our aim was to understand the involvement of the inherited mutations in these genes in a breast cancer cohort. Two hundred ninety-six female breast cancer patients including 4.5% of familial breast cancer cases were included in the study. 200 ng of genomic DNA was used to evaluate the pathogenic mutations, detected using Global Screening Array (GSA) microchip (Illumina Inc...
April 26, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29685716/homocysteine-and-incident-atrial-fibrillation-the-atherosclerosis-risk-in-communities-study-and-the-multi-ethnic-study-of-atherosclerosis
#5
Yasuhiko Kubota, Alvaro Alonso, Susan R Heckbert, Faye L Norby, Aaron R Folsom
BACKGROUND: Although many studies have investigated the association of blood homocysteine with major cardiovascular diseases such as coronary heart disease and stroke, research on its association with atrial fibrillation (AF) is scarce. METHODS: We analysed data from Atherosclerosis Risk in Communities (ARIC) Study (n=492, age 45-64 years) and Multi-Ethnic Study of Atherosclerosis (MESA) (n=6,641, age 45-84 years). RESULTS: During the 10,106 and 67,613 person-years of follow-up, we identified 85 and 351 AF events in ARIC and MESA, respectively...
March 21, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29662106/pharmacogenetics-of-platinum-based-chemotherapy-impact-of-dna-repair-and-folate-metabolism-gene-polymorphisms-on-prognosis-of-non-small-cell-lung-cancer-patients
#6
Cristina Pérez-Ramírez, Marisa Cañadas-Garre, Ahmed Alnatsha, Eduardo Villar, Javier Valdivia-Bautista, María José Faus-Dáder, Miguel Ángel Calleja-Hernández
Chemotherapy based on platinum compounds is the standard treatment for NSCLC patients with EGFR wild type, and is also used as second line in mutated EGFR patients. Nevertheless, this therapy presents poor clinical outcomes. ERCC1, ERCC2, XRCC1, MDM2, MTHFR, MTR, and SLC19A1 gene polymorphisms may contribute to individual variation in response and survival to platinum-based chemotherapy. The aim of this study was to investigate the influence of these polymorphisms on response and survival of NSCLC patients treated with platinum-based chemotherapy...
April 17, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29627528/the-association-between-donor-genetic-variations-in-one-carbon-metabolism-pathway-genes-and-hepatitis-b-recurrence-after-liver-transplantation
#7
Di Lu, Jianyong Zhuo, Modan Yang, Chao Wang, Pan Linhui, Haiyang Xie, Xiao Xu, Shusen Zheng
BACKGROUNDS AND AIM: Hepatitis B recurrence adversely affects patients' survival after liver transplantation. This study aims to find association between donor gene variations of one carbon metabolism and post-transplant hepatitis B recurrence. METHODS: This study enrolled 196 patients undergoing liver transplantation for HBV related end-stage liver diseases. We detected 11 single nucleotide polymorphisms (SNP) of 7 one-carbon metabolism pathway genes (including MTHFR, MTR, MTRR, ALDH1L1, GART, SHMT1 and CBS) in donor livers and analyzed their association with HBV reinfection after liver transplantation...
April 5, 2018: Gene
https://www.readbyqxmd.com/read/29624150/frequency-and-characteristics-associated-with-inherited-thrombophilia-in-patients-with-intracranial-dural-arteriovenous-fistula
#8
Sara C LaHue, Helen Kim, Ludmila Pawlikowska, Jeffrey Nelson, Daniel L Cooke, Steven W Hetts, Vineeta Singh
OBJECTIVE The pathogenesis of dural arteriovenous fistulas (DAVFs) remains poorly defined. Prior studies on thrombophilia as a risk factor for DAVF development are limited by small sample sizes and poor generalizability. METHODS In this longitudinal observational study, all patients with intracranial DAVFs evaluated at the University of California, San Francisco from December 1994 through April 2014 were identified. After obtaining patient consent, 3 thrombophilic mutations, factor V Leiden (rs6025), MTHFR (rs1801133), and prothrombin G20210A, were genotyped...
April 6, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29600437/cbs-mutations-and-mtfhr-snps-causative-of-hyperhomocysteinemia-in-pakistani-children
#9
Shahnaz Ibrahim, Saadia Maqbool, Maleeha Azam, Mohammad Perwaiz Iqbal, Raheel Qamar
Three index patients with hyperhomocysteinemia and ocular anomalies were screened for cystathionine beta synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms. Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. Sanger sequencing was performed for CBS exonic sequences along with consensus splice sites. In the case of MTHFR polymorphisms, all the patients were heterozygous CT for the single nucleotide polymorphism (SNP) C677T and were therefore carriers of the risk allele (T), while the patients were homozygous CC for the risk genotype of the SNP A1298C...
March 29, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29532755/homocysteine-and-hyperhomocysteinaemia
#10
Bozidarka L Zaric, Milan Obradovic, Vladan Bajic, Mohamed A Haidara, Milos Jovanovic, Esma R Isenovic
Homocysteine (Hcy) is thiol group containing the amino acid, which naturally occurs in all humans. Hcy is degraded in the body through two metabolic pathways, while a minor part is excreted through kidneys. The chemical reactions that are necessary for degradation of Hcy require the presence of the folic acid, vitamins B6 and B12. Consequently, the level of the total Hcy in the serum is influenced by the presence or absence of these vitamins. An elevated level of the Hcy, hyperhomocysteinemia (HHcy) and homocystinuria are connected with occlusive artery disease, especially in the brain, the heart, and the kidney, in addition to venous thrombosis, chronic renal failure, megaloblastic anemia, osteoporosis, depression, Alzheimer's disease, pregnancy problems, and others...
March 12, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29526315/identification-of-genetic-risk-factors-associated-with-ischaemic-stroke-in-young-mexican-patients
#11
M C Jiménez-González, D Santiago-Germán, E F Castillo-Henkel, J A Alvarado-Moreno, J Hernández-Juárez, A Leaños-Miranda, A Majluf-Cruz, I Isordia-Salas
INTRODUCTION: Numerous polymorphisms in candidate genes coding for haemostatic system proteins have been proposed as risk factors for thrombosis. METHODS: We performed a case-control study of consecutive ischaemic stroke survivors aged ≤ 45 years, treated at our neurology department from 2006 to 2014. Polymerase chain reaction-restriction fragment length polymorphism identified the following polymorphisms: Thr325Ile and Ala147Thr in TAFI, 4G/5G in PAI-1, PLA1/A2 in platelet glycoprotein IIb/IIIa, Glu298Asp in eNOS, and C677T in 5,10-MTHFR...
March 8, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29524840/computational-analysis-for-the-determination-of-deleterious-nssnps-in-human-mthfr-gene
#12
Mansi Desai, J B Chauhan
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme involved in folate metabolism and plays a central role in DNA methylation and biosynthesis. MTHFR mutations may alter the cellular folate supply which in turn affects nucleic acid synthesis, DNA methylation and chromosomal damage. The identification of number of SNPs in the human genome growing nowadays and hence, the evaluation of functional & structural consequences of these SNPs is very laborious by means of experimental analysis. Therefore, in the present study, recently developed various computational algorithms have been used which can predict the functional and structural consequences of the SNPs...
February 27, 2018: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/29465562/subacute-onset-leukodystrophy-and-visual-spatial-disorders-revealing-phenylketonuria-combined-with-homocysteinmia-in-adulthood-a-case-report
#13
Chunchen Wang, Jieying Li
RATIONALE: Phenylketonuria (PKU) is a metabolic disorder, which manifests a progressive irreversible neurological impairment during infancy and childhood. Hyperhomocysteinemia also showed that it might be involved in pathophysiology of many neuropsychiatric disorders. The late-onset clinical manifestations of these 2 diseases have not been reported elsewhere. We speculated that the late-onset PKU is caused by 2 kinds of metabolic dysfunction synergistically, especially a short period of irregular diet directly caused clinical symptoms...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29461227/-the-differentiated-approach-to-prevention-of-neural-tube-defects-in-children
#14
N Kotova, V Maichuk, O Fedorenko
Neural tube defects occupy second place in frequency after the defects of the cardiovascular system. The folate metabolism violation and hyperhomocysteinemia in women are proved to be the leading risk factors for the NTD of the fetus. Polymorphism of the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) is a genetic determinant of folate metabolism violation. Admission of folic acid in a standard dose of 0.4 mg and / or the use of fortified foods does not allow reaching the protective level of folic acid if there is a mutation of the MTHFR gene or when several risk factors combine, which requires a higher dose of folic acid...
January 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29454086/high-prevalence-of-factor-v-leiden-and-prothrombin-g20101a-mutations-in-kashmiri-patients-with-venous-thromboembolism
#15
Syed Shafia, Mahrukh H Zargar, Nabeela Khan, Rehana Ahmad, Zafar Amin Shah, Ravouf Asimi
AIM: The genetic variants of the factor V (G1691A), prothrombin (G20210A) and MTHFR (C677T) genes have been widely implicated as inherited risk factors for developing venous thrombosis. This study was undertaken to reveal the frequency of these mutations in Kashmiri patients with venous thromboembolism. METHODOLOGY: A case-control study was designed with 250 VTE patients and 250 healthy controls. The mutations were analysed using ARMS-PCR and PCR-RFLP approach. RESULT: The factor V Leiden G1691A mutation was found in 17/250 (6...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29439641/methylenetetrahydrofolate-reductase-gene-polymorphism-c677t-as-a-risk-factor-for-arterial-thrombosis-in-georgian-patients
#16
Sopio Garakanidze, Elísio Costa, Elsa Bronze-Rocha, Alice Santos-Silva, Giorgi Nikolaishvili, Irina Nakashidze, Nona Kakauridze, Salome Glonti, Rusudan Khukhunaishvili, Marina Koridze, Sarfraz Ahmad
Methylenetetrahydrofolate reductase ( MTHFR) gene polymorphism (C677T)] is a well-recognized genetic risk factor for venous thrombosis; however, its association with arterial thrombosis is still under debate. Herein, we evaluated the prevalence of MTHFR C677T polymorphism in Georgian patients in comparison with healthy individuals and its association with arterial thrombosis. We enrolled 214 participants: 101 with arterial thrombosis (71.3% males; mean age: 66.3 ± 12.1 years) and 113 controls (67.3% males; mean age: 56...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29435277/methylenetetrahydrofolate-reductase-gene-c677t-and-a1298c-polymorphisms-and-susceptibility-to-recurrent-pregnancy-loss
#17
Domenico Dell'Edera, Antonella L'Episcopia, Francesca Simone, Maria Giovanna Lupo, Annunziata Anna Epifania, Arianna Allegretti
Several studies have investigated the link between two different polymorphisms (C677T and A1298T) of the gene encoding methylenetetrahydrofolate reductase (MTHFR) and the risk of recurrent pregnancy loss (RPL); however, the results remain controversial. This study aimed to provide greater insight into this debated topic. In the current study, two groups of pregnant women (group A: RPL women; group B: non-RPL women), each of which were subdivided further into two subgroups based on their gestational age, were screened for C677T and A1298T variants of the MTHFR gene...
February 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29428736/whole-genome-sequencing-identifies-novel-notch3-mutations-for-leukoaraiosis
#18
Wen-Lei Shi, Yong-Biao Zhang, Wei Wei, Hong-Yan Gao, Yong-Hua Huang
BACKGROUND: Leukoaraiosis, a subtype of cerebral small vessel disease, is a common condition found on CT or MRI in elderly people. Leukoaraiosis is strongly associated with cognitive impairment, mental abnormality, gait disorders and urinary dysfunction. However, the genetic risk of leukoaraiosis is largely unknown. OBJECTIVE: The goal of this study is to identify the loss-of-function mutations for leukoaraiosis in Chinese. METHODS: We performed whole-genome sequencing on 11 leukoaraiosis patients and further validated the candidate mutations and tags of the candidate genes in 304 individuals including 160 patients and 144 healthy controls using Sequenom MassARRAY platform...
February 8, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29407039/a-role-for-glutamine-183-in-the-folate-oxidative-half-reaction-of-methylenetetrahydrofolate-reductase-from-escherichia-coli
#19
Chong Zuo, Amber L Jolly, Andriana P Nikolova, David I Satzer, Sirui Cao, Jeremy S Sanchez, David P Ballou, Elizabeth E Trimmer
The flavoprotein methylenetetrahydrofolate reductase (MTHFR) from Escherichia coli catalyzes a ping-pong reaction with NADH and 5,10-methylenetetrahydrofolate (CH2 -H4 folate) to produce NAD+ and 5-methyltetrahydrofolate (CH3 -H4 folate). This work focuses on the function of the invariant, active-site aminoacyl residue Gln183. X-ray structures of the enzyme complexes Ered (wild-type)•NADH and Eox (Glu28Gln)•CH3 -H4 folate indicate that Gln183 makes key hydrogen-bonding interactions with both NADH and folate in their respective half-reactions, suggesting roles in binding each substrate...
March 15, 2018: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/29395581/association-of-elevated-homocysteine-levels-and-methylenetetrahydrofolate-reductase-mthfr-1298-a-c-polymorphism-with-vitiligo-susceptibility-in-gujarat
#20
Shahnawaz D Jadeja, Mohmmad Shoab Mansuri, Mala Singh, Hima Patel, Yogesh S Marfatia, Rasheedunnisa Begum
BACKGROUND: Several studies have reported hyperhomocysteinemia in vitiligo patients, suggesting the potential role of elevated homocysteine levels in precipitating vitiligo. OBJECTIVES: We aimed to estimate homocysteine and vitamin B12 levels, and to investigate the role of MTHFR 677 C > T and 1298 A > C polymorphisms in vitiligo susceptibility in Gujarat population. METHODS: Homocysteine and vitamin B12 levels were estimated in plasma of 55 vitiligo patients and 60 controls by Electrochemiluminescence immunoassay (ECLIA)...
January 30, 2018: Journal of Dermatological Science
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