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Methylenetetrahydrofolate reductase and transcobalamin genetic polymorphisms in human spontaneous abortion: biological and clinical implications.

Abstract

The pathogenesis of human spontaneous abortion involves a complex interaction of several genetic and environmental factors. The firm association between increased homocysteine concentration and neural tube defects (NTD) has led to the hypothesis that high concentrations of homocysteine might be embryotoxic and lead to decreased fetal viability. There are several genetic polymorphisms that are associated with defects in folate- and vitamin B12-dependent homocysteine metabolism. The methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms cause elevated homocysteine concentration and are associated with an increased risk of NTD. Additionally, low concentration of vitamin B12 (cobalamin) or transcobalamin that delivers vitamin B12 to the cells of the body leads to hyperhomocysteinemia and is associated with NTD. This effect involves the transcobalamin (TC) 776C>G polymorphism. Importantly, the biochemical consequences of these polymorphisms can be modified by folate and vitamin B12 supplementation. In this review, I focus on recent studies on the role of hyperhomocysteinemia-associated polymorphisms in the pathogenesis of human spontaneous abortion and discuss the possibility that periconceptional supplementation with folate and vitamin B12 might lower the incidence of miscarriage in women planning a pregnancy.

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  • Authors+Show Affiliations

    Department of Clinical Chemistry and Transfusion Medicine, Sahlgrenska University Hospital, Göteborg University, S-413 45 Göteborg, Sweden. henrik.zetterberg@clinchem.gu.se

    Source

    MeSH

    Abortion, Spontaneous
    Animals
    Embryonic Development
    Folic Acid
    Homocysteine
    Humans
    Methylenetetrahydrofolate Reductase (NADPH2)
    Polymorphism, Genetic
    Transcobalamins
    Vitamin B 12

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't
    Review

    Language

    eng

    PubMed ID

    14969589

    Citation

    Zetterberg, Henrik. "Methylenetetrahydrofolate Reductase and Transcobalamin Genetic Polymorphisms in Human Spontaneous Abortion: Biological and Clinical Implications." Reproductive Biology and Endocrinology : RB&E, vol. 2, 2004, p. 7.
    Zetterberg H. Methylenetetrahydrofolate reductase and transcobalamin genetic polymorphisms in human spontaneous abortion: biological and clinical implications. Reprod Biol Endocrinol. 2004;2:7.
    Zetterberg, H. (2004). Methylenetetrahydrofolate reductase and transcobalamin genetic polymorphisms in human spontaneous abortion: biological and clinical implications. Reproductive Biology and Endocrinology : RB&E, 2, p. 7.
    Zetterberg H. Methylenetetrahydrofolate Reductase and Transcobalamin Genetic Polymorphisms in Human Spontaneous Abortion: Biological and Clinical Implications. Reprod Biol Endocrinol. 2004 Feb 17;2:7. PubMed PMID: 14969589.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Methylenetetrahydrofolate reductase and transcobalamin genetic polymorphisms in human spontaneous abortion: biological and clinical implications. A1 - Zetterberg,Henrik, Y1 - 2004/02/17/ PY - 2004/01/03/received PY - 2004/02/17/accepted PY - 2004/2/19/pubmed PY - 2004/12/16/medline PY - 2004/2/19/entrez SP - 7 EP - 7 JF - Reproductive biology and endocrinology : RB&E JO - Reprod. Biol. Endocrinol. VL - 2 N2 - The pathogenesis of human spontaneous abortion involves a complex interaction of several genetic and environmental factors. The firm association between increased homocysteine concentration and neural tube defects (NTD) has led to the hypothesis that high concentrations of homocysteine might be embryotoxic and lead to decreased fetal viability. There are several genetic polymorphisms that are associated with defects in folate- and vitamin B12-dependent homocysteine metabolism. The methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms cause elevated homocysteine concentration and are associated with an increased risk of NTD. Additionally, low concentration of vitamin B12 (cobalamin) or transcobalamin that delivers vitamin B12 to the cells of the body leads to hyperhomocysteinemia and is associated with NTD. This effect involves the transcobalamin (TC) 776C>G polymorphism. Importantly, the biochemical consequences of these polymorphisms can be modified by folate and vitamin B12 supplementation. In this review, I focus on recent studies on the role of hyperhomocysteinemia-associated polymorphisms in the pathogenesis of human spontaneous abortion and discuss the possibility that periconceptional supplementation with folate and vitamin B12 might lower the incidence of miscarriage in women planning a pregnancy. SN - 1477-7827 UR - https://www.unboundmedicine.com/medline/citation/14969589/Methylenetetrahydrofolate_reductase_and_transcobalamin_genetic_polymorphisms_in_human_spontaneous_abortion:_biological_and_clinical_implications_ L2 - https://rbej.biomedcentral.com/articles/10.1186/1477-7827-2-7 DB - PRIME DP - Unbound Medicine ER -