MTHFR C677T and A1298C Mutations
A thermolabile methylenetetrahydrofolate reductase (MTHFR) is
associated with high plasma levels of homocysteine.
Patients homozygous for the C677T mutation have a 70% reduction in
MTHFR activity and twice the plasma homocysteine concentration
compared to normal individuals with no mutation. Patients with the
C677T mutation respond to folic acid therapy.
1. Frosst, P., et al., (1995) A candidate risk factor for vascular disease:
a common mutation in methylenetetrahydrofolate reductase. Nature
2. Kluijtman, L.A., et al. (1995) Molecualr genetic analysis in mild
hyperhomocysteinemia: A common mutation in the
methylenetetrahydrofolate reductase gene is a risk factor for
cardiovascular disease. Am. J. Human Genet. 58:35-41.
3. Rosen, R. (1996) Molecular genetics of methylenetetrahydrofolate
reductase deficiency. J. Inher. Metab. Dis. 19:589-94.
4. Glueck, C.J., Fontaine, R.N., Gupta, A. Alasmi, M. Myocardial
infarction in a 35 year old male with homocysteinemia, high
plasminogen activator activity, and resistance to activated protein C.
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