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Methylenetetrahydrofolate reductase, common polymorphisms, and relation to disease

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dc.contributor.authorThomas, P.
dc.contributor.authorFenech, M.
dc.contributor.editorLitwack, G.
dc.date.issued2008
dc.descriptionCopyright © 2008 Elsevier Inc. All rights reserved.
dc.description.abstractFolate plays a key role in maintaining genomic stability and providing methyl groups for the formation of dTMP from dUMP which is required for DNA synthesis and repair and for the maintenance of methylation patterns involving cytosine or specific sites such as CpG islands. Under conditions of low folate, dUMP accumulates producing DNA strand breaks and micronucleus formation as a result of excessive uracil incorporation into DNA in place of thymine. Methylenetetrahydrofolate reductase (MTHFR) is an important folate metabolizing enzyme that catalyzes the irreversible conversion of 5,10-methylenetretrahydrofolate, which is the methyl donor for the conversion of dUMP to dTMP, into 5-methyltetrahydrofolate, which is the methyl donor for remethylation of homocysteine to methionine. Certain common polymorphisms within the MTHFR gene (C677T, A1298C) result in reduced enzymatic activity and have been associated with reduced risk for a variety of cancers such as acute lymphocytic leukemia, lung and colorectal cancer. These common polymorphisms are also associated with hyperhomocysteinemia that has been reported to be an increased risk factor for neural tube defects and cardiovascular disease. In this chapter, we consider the role that MTHFR plays in relation to folate metabolism and the possible contribution made in relation to certain important clinical outcomes.
dc.description.statementofresponsibilityPhilip Thomas and Michael Fenech
dc.description.urihttp://www.elsevier.com/wps/find/bookdescription.cws_home/706327/description#description
dc.identifier.citationVitamins and Hormones: Advances in Research and Applications, 2008; 79:375-392
dc.identifier.doi10.1016/S0083-6729(08)00413-5
dc.identifier.issn0083-6729
dc.identifier.orcidFenech, M. [0000-0002-8466-0991]
dc.identifier.urihttp://hdl.handle.net/2440/53479
dc.language.isoen
dc.publisherAcademic Press Inc
dc.source.urihttps://doi.org/10.1016/s0083-6729(08)00413-5
dc.subjectHumans
dc.subjectNeoplasms
dc.subjectPre-Eclampsia
dc.subjectGenetic Predisposition to Disease
dc.subjectGenomic Instability
dc.subjectMethylenetetrahydrofolate Reductase (NADPH2)
dc.subjectNutritional Status
dc.subjectPregnancy
dc.subjectPolymorphism, Genetic
dc.subjectFemale
dc.subjectRacial Groups
dc.titleMethylenetetrahydrofolate reductase, common polymorphisms, and relation to disease
dc.typeJournal article
pubs.publication-statusPublished

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