Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The amino-acid homocysteine plays a crucial role in cell metabolism. It participates in the remethylation pathway enabling maintenance of adequate cellular levels of methionine or is catabolized by transsulphuration. A number of hereditary defects in the enzymes involved in homocysteine metabolism and acquired deficiencies in the vitamin cofactors of these enzymes are associated with the development of hyperhomocysteinaemia. The association between high circulating homocysteine levels and premature vascular thrombosis is well established in individuals with hereditary homocystinuria. There is now good epidemiological evidence that mild hyperhomocysteinaemia is an independent risk factor in the development of arterial disease and venous thrombosis although the causes of the elevated plasma homocysteine are unclear. A good candidate is homozygosity for the common thermolabile variant of methylenetetrahydrofolate reductase but the evidence for a causative association is conflicting. A number of in vitro effects of homocysteine on vascular endothelium, platelets and coagulation have been described which may predispose to vascular disease but the exact in vivo mechanisms remain to be elucidated. Dietary folate supplementation may normalize homocysteine in hyperhomocysteinaemic individuals and modify the risk of vascular disease.
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PMID:Hyperhomocysteinaemia and vascular disease. 959 95