Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects.
This overview addresses homocysteine and folate metabolism. Its functions and complexity are described, leading to explanations why disturbed homocysteine and folate metabolism is implicated in many different diseases, including congenital birth defects like congenital heart disease, cleft lip and palate, late pregnancy complications, different kinds of neurodegenerative and psychiatric diseases, osteoporosis and cancer. In addition, the inborn errors leading to hyperhomocysteinemia and homocystinuria are described. These extreme human hyperhomocysteinemia models provide knowledge about which part of the homocysteine and folate pathways are linked to which disease. For example, the very high risk for arterial and venous occlusive disease in patients with severe hyperhomocysteinemia irrespective of the location of the defect in remethylation or transsulphuration indicates that homocysteine itself or one of its "direct" derivatives is considered toxic for the cardiovascular system. Finally, common diseases associated with elevated homocysteine are discussed with the focus on cardiovascular disease and neural tube defects.
Blom
Henk J
HJ
Metabolic Unit, Department of Clinical Chemistry, Institute for Cardiovascular Research (ICaR-VU), VU University Medical Centre, Amsterdam, The Netherlands. h.blom@vumc.nl
Smulders
Yvo
Y
D002318:Cardiovascular Diseases / Q000209:etiology / Q000378:metabolism* / Q000517:prevention & control; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D006710:Homocysteine / Q000378:metabolism*; D006801:Humans; D008954:Models, Biological; D009436:Neural Tube Defects / Q000209:etiology / Q000378:metabolism* / Q000517:prevention & control; D011247:Pregnancy; D012307:Risk Factors
D006710:Homocysteine; D005492:Folic Acid
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