Genetic variation in folate metabolism - impact on development.

摘要: Folate derivatives are utilized in single-carbon transfer reactions for many critical pathways, including methionine and DNA synthesis (see Fig. 1). For example, 5,10-methylene tetrahydrofolate (5,10-methylene THF) is required conversion of dUMP to dTMP. It can also be converted 10formyltetrahydrofolate the purine ring, or reduced 5-methyltetrahydrofolate (5-methylTHF) remethylation homocysteine methionine. Methionine precursor S-adenosymethionine (SAM), methyl donor numerous methylation reactions. The enzyme reductase (MTHFR) converts THF 5-methylTHF, thereby regulating a balance between folate methionine/SAM importance MTHFR SAM supply highlighted by fact that inhibitor. A common sequence variant has been implicated several different complex conditions, cardiovascular disease, neural tube defects, pregnancy complications, cancer. This chapter will review our current knowledge on biology developmental problems associated with this gene. Other relevant enzymes pathway their variants mentioned briefly, but additional studies assess impact development.