Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid …

Z Chen, AC Karaplis, SL Ackerman… - Human molecular …, 2001 - academic.oup.com
Hyperhomocysteinemia, a risk factor for cardiovascular disease, is caused by nutritional
and/or genetic disruptions in homocysteine metabolism. The most common genetic cause of …

Effect of Mthfr genotype on diet-induced hyperhomocysteinemia and vascular function in mice

AM Devlin, E Arning, T Bottiglieri, FM Faraci, R Rozen… - Blood, 2004 - ashpublications.org
Deficiency of methylenetetrahydrofolate reductase (MTHFR) predisposes to
hyperhomocysteinemia and vascular disease. We tested the hypothesis that heterozygous …

Mutations in methylenetetrahydrofolate reductase or cystathionine β‐syntase gene, or a high‐methionine diet, increase homocysteine thiolactone levels in humans …

G Chwatko, GHJ Boers, KA Strauss, DM Shih… - The FASEB …, 2007 - Wiley Online Library
Genetic disorders of homocysteine (Hcy) metabolism or a high‐methionine diet lead to
elevations of plasma Hcy levels. In humans, severe genetic hyperhomocysteinemia results …

Molecular biology of methylenetetrahydrofolate reductase (MTHFR) and overview of mutations/polymorphisms

D Leclerc, S Sibani, R Rozen - MTHFR polymorphisms and …, 2005 - books.google.com
M ethylenetetrahydrofolate and clarified homocysteine our understanding metabolism.
reductase of MTHFR Research (MTHFR) deficiencies performed is a that key cause during …

MTHFR: addressing genetic counseling dilemmas using evidence-based literature

BL Levin, E Varga - Journal of genetic counseling, 2016 - Springer
Abstract The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the
folate metabolism pathway, the byproducts of which are involved in the remethylation of …

Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: the result of a meta-analysis

L Brattström, DEL Wilcken, J Öhrvik, L Brudin - Circulation, 1998 - Am Heart Assoc
Background—The results of retrospective and prospective case-control studies have clearly
established that mild elevations of the plasma homocysteine level are associated with …

Common mutation in methylenetetrahydrofolate reductase: correlation with homocysteine metabolism and late-onset vascular disease

TG Deloughery, A Evans, A Sadeghi, J McWilliams… - Circulation, 1996 - Am Heart Assoc
Background Increased homocysteine levels are a risk factor for atherosclerosis and its
sequelae. A common genetic mutation in methylenetetrahydrofolate reductase (MTHFR), an …

A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and …

KJ Lievers, GH Boers, P Verhoef, M Heijer… - Journal of molecular …, 2001 - Springer
Molecular defects in genes encoding enzymes involved in homocysteine metabolism may
account for mild hyperhomocysteinemia, an independent and graded risk factor for …

[HTML][HTML] Genetics of homocysteine metabolism and associated disorders

S Brustolin, R Giugliani, TM Felix - Brazilian Journal of Medical and …, 2010 - SciELO Brasil
Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine,
an essential amino acid, and is metabolized by one of two pathways: remethylation or …

The common 'thermolabile'variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia

DL Harmon, JV Woodside, JWG Yarnell… - … Journal of Medicine, 1996 - academic.oup.com
Mild hyperhomocysteinaemia is a major risk factor for vascular disease and neural tube
defects (NTDs), conferring an approximately three-fold relative risk for each condition. It has …