Mitochondrial one-carbon metabolism and neural tube defects.
Mitochondrial one-carbon metabolism and neural tube defects.
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DOI：
10.1002/bdra.23268
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发表时间：
2014-08
期刊：
影响因子：
--
通讯作者：
Jessica Momb;D. Appling
中科院分区：
文献类型：
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作者：
Jessica Momb;D. Appling
背景神经管缺陷是人类最常见的出生缺陷之一。在20世纪70年代，母亲摄入叶酸与预防NTDS有关。这一认识导致在许多国家建立了强制性和/或自愿性食品叶酸强化计划，使人类NTDS的发生率降低了高达70%。尽管进行了40年的深入研究，但叶酸保护作用的生化机制仍不清楚。结果最近的研究揭示了线粒体叶酸依赖的一碳代谢在神经管关闭中的作用。结论在这篇文章中，我们回顾了在人类和小鼠模型中，NTDS与线粒体一碳代谢异常有关的证据。甲酸盐，线粒体一碳代谢的产物，预防NTDS的潜力也被讨论。
BACKGROUND Neural tube defects (NTDs) are one of the most common birth defects in humans. Maternal intake of folic acid was linked to prevention of NTDs in the 1970s. This realization led to the establishment of mandatory and/or voluntary food folic acid fortification programs in many countries that have reduced the incidence of NTDs by up to 70% in humans. Despite 40 years of intensive research, the biochemical mechanisms underlying the protective effects of folic acid remain unknown. RESULTS Recent research reveals a role for mitochondrial folate-dependent one-carbon metabolism in neural tube closure. CONCLUSION In this article, we review the evidence linking NTDs to aberrant mitochondrial one-carbon metabolism in humans and mouse models. The potential of formate, a product of mitochondrial one-carbon metabolism, to prevent NTDs is also discussed.