Search results for "MTHFR"

showing 3 items of 13 documents

Genetic variants in the MTHFR are not associated with fatty liver disease.

2020

The common missense sequence variants of methylenetetrahydrofolate reductase (MTHFR), rs1801131 (c.A1298C) and rs1801133 (c.C677T), favour the development of hyperhomocysteinemia and diminished DNA methylation. Previous studies, carried out in small series and with suboptimal characterization of the hepatic phenotype, tested the association of these genetic variants with fatty liver disease (FLD), with conflicting results. Here, we assessed the association of rs1801131 and rs1801133 with hepatic phenotype in the Liver Biopsy Cross-Sectional Cohort, a large cohort (n=1375 from Italy and 411 from Finland) of European individuals with suspect FLD associated with dysmetabolism. A total of 1786 …

medicine.medical_specialtyHyperhomocysteinemiaGenotypeGastroenterologyPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineNAFLDInternal medicinesteatosisMedicineMissense mutationHumansGenetic Predisposition to DiseaseFinlandMethylenetetrahydrofolate Reductase (NADPH2)Hepatologymedicine.diagnostic_testbiologybusiness.industryFatty liverNASHmedicine.diseaseFatty LiverCross-Sectional StudiesItaly030220 oncology & carcinogenesisLiver biopsyMethylenetetrahydrofolate reductaseCase-Control StudiesMTHFRDNA methylationCohortbiology.proteinfatty liver disease030211 gastroenterology & hepatologySteatosisfibrosibusinessLiver international : official journal of the International Association for the Study of the LiverREFERENCES
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Therapeutical approach to plasma homocysteine and cardiovascular risk reduction

2008

Marcello Ciaccio, Giulia Bivona, Chiara BelliaDepartment of Medical Biotechnologies and Forensic Medicine, Faculty of Medicine, University of Palermo, ItalyAbstract: Homocysteine is a sulfur-containing aminoacid produced during metabolism of methionine. Since 1969 the relationship between altered homocysteine metabolism and both coronary and peripheral atherotrombosis is known; in recent years experimental evidences have shown that elevated plasma levels of homocysteine are associated with an increased risk of atherosclerosis and cardiovascular ischemic events. Several mechanisms by which elevated homocysteine impairs vascular function have been proposed, including impairment of endothelial…

medicine.medical_specialtyHyperhomocysteinemiaHomocysteineReviewRM1-950folatehomocysteine MTHFR cardiovascular disease folate B vitaminchemistry.chemical_compoundcardiovascular diseaseInternal medicineMedicinePharmacology (medical)General Pharmacology Toxicology and PharmaceuticsEndothelial dysfunctionchemistry.chemical_classificationReactive oxygen speciesChemical Health and SafetyMethioninebiologybusiness.industryhomocysteineGeneral MedicineMetabolismmedicine.diseaseB vitaminB vitaminsEndocrinologychemistryMethylenetetrahydrofolate reductaseMTHFRbiology.proteinTherapeutics. PharmacologybusinessSafety ResearchTherapeutics and Clinical Risk Management
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Análisis del la relación del genotipado y marcadores de estrés oxidativo con la presencia y grado de vasculopatía periférica en pacientes con diabete…

2014

RESUMEN: Padecer diabetes tipo 2 (DM2) ejerce un efecto independiente y multiplicador en la incidencia de complicaciones vasculares, añadido a la presencia de factores de riesgo clásicos. No todos los diabéticos desarrollan con la misma gravedad la vasculopatía periférica (VP). Este riesgo está presente en la fase de prediabetes, donde las complicaciones vasculares pueden preceder a la aparición de la propia diabetes. La biología vascular ha puesto de manifiesto la participación de otros factores como el estrés oxidativo (EO) y el estado crónico inflamatorio en el incremento de este riesgo. Los principales sistemas conocidos de EO a nivel endotelial generan especies reactivas de oxígeno. Pa…

mthfrmalonildialdehído:CIENCIAS MÉDICAS ::Medicina interna [UNESCO]diabetes mellitus tipo 2UNESCO::CIENCIAS MÉDICASpolimorfismoshomocisteínaxantinoxidasasistema glutatión:CIENCIAS MÉDICAS [UNESCO]índice tobillo brazocbsUNESCO::CIENCIAS MÉDICAS ::Medicina interna
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