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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
TLDR
This work has identified a common mutation in MTHFR which alters a highly-conserved amino acid; the substitution occurs at a frequency of approximately 38% of unselected chromosomes and may represent an important genetic risk factor in vascular disease. Expand
A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.
TLDR
A second common variant in MTHFR (A1298C), an E to A substitution, was characterized, associated with decreased enzyme activity; homozygotes had approximately 60% of control activity in lymphocytes, lower than that seen in single heterozygotes for the C677T variant. Expand
Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer.
TLDR
Support is provided for an important role of folate metabolism in colon carcinogenesis and suggests that the 677C-->IT mutation in MTHFR reduces colon cancer risk, perhaps by increasing 5,10-methylenetetrahydrofolate levels for DNA synthesis, but that low folate intake or high alcohol consumption may negate some of the protective effect. Expand
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.
TLDR
This study provides the first genetic link between vitamin B(12) deficiency and NTDs and supports the multifactorial origins of these common birth defects. Expand
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.
TLDR
The results are consistent with the preliminary observation that the MTHFR 677C-->T polymorphism is more prevalent among mothers of children with Down syndrome than among control mothers, and the two polymorphisms appear to act without a multiplicative interaction. Expand
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.
TLDR
Individuals with thermolabile MTHFR may have a higher folate requirement for regulation of plasma homocysteine concentrations; folate supplementation may be necessary to prevent fasting hyperhomocysteinemia in such persons. Expand
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.
TLDR
Abnormal lipid deposition in the proximal portion of the aorta was observed in older heterozygotes and homozygotes, alluding to an atherogenic effect of hyperhomocysteinemia in these mice. Expand
The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia
TLDR
Folate derivatives protect wild-type and mutant E. coli enzymes against flavin loss, and protect human MTHFR and the A222V mutant against thermal inactivation, suggesting a mechanism by which folate treatment reduces homocysteine levels. Expand
Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase
TLDR
The Ala222Val MTHFR, however, has an enhanced propensity to dissociate into monomers and to lose its FAD cofactor on dilution; the resulting loss of activity is slowed in the presence of methyltetrahydrofolate or adenosylmethionine. Expand
Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)
TLDR
The isolation and characterization of the human and mouse genes for MTHFR are reported, finding the exon sizes, locations of intronic boundaries, and intron sizes are quite similar between the two species. Expand
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