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Folate vitamin is essential for the synthesis of sulfur-containing amino acids, thymidylate and purines, and for methylation processes in tissues. It is therefore essential for cell growth, survival and differentiation. Inadequate folate status is associated with human disease by increasing blood homocysteine levels, genomic DNA instability with uracil misincorporation, and epigenetic alterations (DNA/histones methylation) that regulate specific gene expression and can be influenced by the environment during gestation and early postnatal life. Megaloblastic anaemia, cancer, vascular diseases, neurological diseases and birth defects are associated with folate deficiency. Diet as well as genetic determinants is explored in this chapter as predictive elements regarding these diseases. Conversely, non-controlled folate supplementation can exacerbate carcinogenesis in specific conditions. This review covers briefly nutritional, genetic and non-genetic conditions leading to abnormal folate metabolism consequences and evokes how scientific approaches are currently being undertaken to deepen our understanding of the relationship between folate and health risks.

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