The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsants
| Autor: | Nobuyuki Mizoguchi, Akiko Sakamoto, Hiroaki Ono, Nobuo Sakura |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Adult
Hyperhomocysteinemia medicine.medical_specialty Homocysteine Adolescent Genotype medicine.medical_treatment Homocystinuria Reductase Folic Acid Deficiency chemistry.chemical_compound Folic Acid Developmental Neuroscience Internal medicine medicine Humans Point Mutation Risk factor Child Methylenetetrahydrofolate Reductase (NADPH2) Oxidoreductases Acting on CH-NH Group Donors Methionine Epilepsy biology business.industry Infant General Medicine medicine.disease Endocrinology Anticonvulsant chemistry Methylenetetrahydrofolate reductase Child Preschool Pediatrics Perinatology and Child Health biology.protein Anticonvulsants Neurology (clinical) business |
| Zdroj: | Braindevelopment. 24(4) |
| ISSN: | 0387-7604 |
| Popis: | Hyperhomocysteinemia, a possible risk factor for vascular disease can result from folate deficiency due to anticonvulsant therapy. A reaction catalyzed by 5,10-methylenetetrahydrofolate reductase (MTHFR) supplies 5-methyltetrahydrofolate, needed to remethylate homocysteine to methionine. MTHFR gene mutation (C677T) also can lead to hyperhomocysteinemia. We examined interaction between anticonvulsant therapy, C677T homozygosity, serum folate concentration, and plasma total homocysteine (tHcy) concentration in 81 epileptic patients. Patients receiving monotherapy showed no difference in occurrence of hyperhomocysteinemia (tHcy>90th percentile for controls) between homozygotes for C677T and heterozygotes or patients with no mutant MTHFR. No monotherapy patient was folate deficient ( |
| Databáze: | OpenAIRE |
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