Genetic determinants of hyperhomocysteinaemia: The roles of cystathionine β-synthase and 5,10-methylenetetrahydrofolate reductase

European Journal of Pediatrics, Supplement

Volumn 159, Issue 3, 2000, Pages

  Blom, H J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cardiovascular disease; Cystathionine synthase; Genetics; Methylenetetrahydrofolate reductase; Mild hyperhomocysteinaemia

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE; CYSTATHIONINE BETA SYNTHASE; CYSTEINE; FOLIC ACID; HOMOCYSTEINE; METHIONINE; METHIONINE SYNTHASE; THREONINE; VITAMIN;

AMINO ACID SUBSTITUTION; CARDIOVASCULAR DISEASE; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FOLIC ACID BLOOD LEVEL; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPERHOMOCYSTEINEMIA; PRIORITY JOURNAL; RISK FACTOR;

EID: 0034435074     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: 10.1007/pl00014405     Document Type: Conference Paper

References (36)

1. A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells
2. Hyperhomocysteinemia, MTHFR and risk of vascular disease
3. Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease
4. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes
5. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: The results of a meta-analysis
6. Hyperhomocysteinemia: An independent risk factor for vascular disease
7. Hyperhomocysteinaemia: A metabolic risk factor for coronary heart disease determined by both genetic and environmental influences?
8. Folate intake in Europe: Recommended, actual and desired intake
9. Hyperhomocysteinaemia and protein S deficiency in complicated pregnancies
10. Disordered methionine/homocysteine metabolism in premature vascular disease. Its occurrence, cofactor therapy, and enzymology
11. Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia
12. MTHFR association with arteriosclerotic vascular disease?
13. Prospective study of coronary heart disease incidence in relation to fasting total homocysteine, related genetic polymorphisms, and B vitamins: The Atherosclerosis Risk in Communities (ARIC) study
14. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
15. Hyperhomocysteinemia: A risk factor for placental abruption or infarction
16. Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification
17. Plasma homocysteine as a risk factor for vascular disease: The European concerted action project
18. Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase
19. Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease
20. Thermolabile defect of methylenetetrahydrofolate reductase in coronary artery disease
21. Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease
22. Thermolabile methylenetetrahydrofolate reductase in coronary artery disease
23. Hyperhomocysteinemia in premature arterial disease: Examination of cystathionine beta-synthase alleles at the molecular level
24. Whole-blood folate values in subjects with different methylenetetrahydrofolate reductase genotypes: Differences between the radioassay and microbiological assays
25. A study of cardiovascular risk in heterozygotes for homocystinuria
26. The natural history of homocystinuria due to cystathionine beta-synthase deficiency
27. Genetic risk factor for unexplained recurrent early pregnancy loss
28. Homocysteine and cardiovascular disease
29. Maternal hyperhomocysteinemia: A risk factor for neural-tube defects?
30. Folate status, homocysteine metabolism, and methylenetetrahydrofolate reductase genotype in rural South African blacks with a history of pregnancy complicated by neural tube defects
31. The relation between hyperhomocysteinemia, coagulation/fibrinolysis and C677T mutation in methylenetetrahydrofolate reductase gene in healthy persons
32. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
33. A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?
34. The molecular genetics of homocystinuria, hyperhomocysteinaemia, and premature vascular disease in Ireland
35. The pathogenesis of coronary artery disease. A possible role for methionine metabolism
36. Hyperhomocysteinemia: A risk factor in women with unexplained recurrent early pregnancy loss