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.
References:
1. Frosst, P., et al., (1995) A candidate risk factor for vascular disease:
a common mutation in methylenetetrahydrofolate reductase. Nature
Genet. 10:111-3.
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.
Metabolism, 46:1470-2.
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(NCBI).
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