Decreased rates of methionine synthesis by methylene tetrahydrofolate reductase-deficient fibroblasts and lymphoblasts.

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Decreased rates of methionine synthesis by methylene tetrahydrofolate reductase-deficient fibroblasts and lymphoblasts.

Methionine synthesis from homocysteine was measured in intact human fibroblasts and lymphoblasts using a [14C]formate label. Seven fibroblast lines and two lymphoblast lines derived from patients with 5,10-methylene tetrahydrofolate reductase deficiency had rates of methionine synthesis that were from 4 to 43% of normal. When the patients were divided by clinical status into mildly (two patient...

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Polymorphisms in the methylene tetrahydrofolate reductase and methionine synthase reductase genes and their correlation with unexplained recurrent spontaneous abortion susceptibility.

We aimed to explore the correlation between unexplained recurrent spontaneous abortion and polymorphisms in the methylene tetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes. A case control study was conducted in 118 patients with unexplained recurrent spontaneous abortion (abortion group) and 174 healthy women (control group). The genetic material was extracted fr...

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Retinal vein occlusion, homocysteine, and methylene tetrahydrofolate reductase genotype.

PURPOSE The aim of this case-control study was to investigate the relationship between homocysteine (tHcy), 5,10 methylene tetrahydrofolate reductase (MTHFR) C677T genotype, folate and vitamin B12 status, and retinal vein occlusion (RVO). METHODS Subjects with RVO (n = 106) were recruited from outpatient and inpatient sources. Controls (n = 98) were selected to achieve a similar age and sex d...

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Review Article Methylene Tetrahydrofolate Reductase Gene and Coronary Artery Disease

Hyperhomocysteinemia has been identified as a risk factor for coronary artery disease (CAD).1-9 In a nested case control study in Norway on 21,826 subjects in general population, hyperhomocysteinemia was clearly identified as an independent risk factor for CAD with no threshold level.9 Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the methylation of homocysteine and its role in...

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ژورنال

عنوان ژورنال: Journal of Clinical Investigation

سال: 1981

ISSN: 0021-9738

DOI: 10.1172/jci110202