Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Nutr Rev. 2010 Feb;68(2):99-113. doi: 10.1111/j.1753-4887.2009.00266.x.
This review summarizes current knowledge of the effect of folate-mediated one-carbon metabolism and related genetic variants on female fertility and pregnancy viability. Insufficient folate status disrupts DNA methylation and integrity and increases blood homocysteine levels. Elevated levels of follicular fluid homocysteine correlate with oocyte immaturity and poor early embryo quality, while methylenetetrahydrofolate reductase (MTHFR) gene variants are associated with lower ovarian reserves, diminished response to follicular stimulation, and reduced chance of live birth after in vitro fertilization. Embryos carrying multiple MTHFR variants appear to have a selective disadvantage; however, the heterozygous MTHFR 677CT genotype in the mother and fetus provides the greatest chance for a viable pregnancy and live birth, possibly due to a favorable balance in folate cofactor distribution between methyl donor and nucleotide synthesis. The results of previous studies clearly emphasize that imbalances in folate metabolism and related gene variants may impair female fecundity as well as compromise implantation and the chance of a live birth.
这篇综述总结了叶酸介导的一碳代谢及其相关遗传变异对女性生育力和妊娠活力的影响。叶酸状态不足会破坏 DNA 甲基化和完整性，并增加血液同型半胱氨酸水平。卵泡液同型半胱氨酸水平升高与卵母细胞不成熟和早期胚胎质量差相关，而亚甲基四氢叶酸还原酶（MTHFR）基因变异与卵巢储备减少、对卵泡刺激反应减弱以及体外受精后活产机会减少有关。携带多种 MTHFR 变异的胚胎似乎具有选择性劣势；然而，母亲和胎儿的杂合 MTHFR 677CT 基因型为可行妊娠和活产提供了最大的机会，这可能是由于叶酸辅助因子在甲基供体和核苷酸合成之间的分配之间存在有利的平衡。先前研究的结果清楚地强调，叶酸代谢和相关基因变异的失衡可能会损害女性的生育能力，以及影响胚胎着床和活产的机会。
