Article
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.
Human molecular genetics - 1 Mar 2001
Chen Z, Karaplis A C, Ackerman S L, Pogribny I P, Melnyk S, Lussier-Cacan S, Chen M F, Pai A, John S W, Smith R S, Bottiglieri T, Bagley P, Selhub J, Rudnicki M A, James S J, Rozen R
Abstract excerpt
Hyperhomocysteinemia, a risk factor for cardiovascular disease, is caused by nutritional and/or genetic disruptions in homocysteine metabolism. The most common genetic cause of hyperhomocysteinemia is the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. This variant, with mild enzymatic deficiency, is associated with an increased risk for neural tube defects and pregnancy complications...
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