What is it about?
Folic acid insufficiency has been shown to increase the incidence of birth defects, such as neural tube defects, but the underlying mechanism remains poorly understood. In this project, we studied epigenetic mechanism of folic acid in the pathology of neural tube defects. Our data indicated that FGF signaling pathway was disturbed in human encephalocele, and suppression of FGF pathway were observed to be regulated by folic acid in both human cases and folic acid-deficient models. Based on this study, we traced the origin of folate deficiency, and further found that Brachyury gene, the key gene of triploblast stage, which was proved to be regulated by folic acid through methylation modifications, also was confirmed to be involved in the regulation of FGF pathway during neurogenesis. In summary, our findings provide the first immediate evidence disturbance of FGF pathway in human pathological specimens of neural tube defects with folate deficiency, and methylation regulation of Brachyury gene link the activity of FGF pathway and folate nutrition. The results suggested that the effect of folic acid deficiency on neurodevelopment might have origin from the triploblast stage. Although epidemiological surveys have shown that supplementation of folic acid in early pregnancy even before pregnancy contributes to eugenics, the specific mechanism is confused, and our research complemented partly the conclusion in theory.
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Why is it important?
our findings provide the first immediate evidence disturbance of FGF pathway in human pathological specimens of neural tube defects with folate deficiency, and methylation regulation of Brachyury gene link the activity of FGF pathway and folate nutrition. The results suggested that the effect of folic acid deficiency on neurodevelopment might have origin from the triploblast stage.
Perspectives
I hope this article makes what people might think is a boring, slightly abstract area like health economics and measuring things like health, kind of interesting and maybe even exciting. Because the way we spend money on health and social care is not just a problem for politicians, managers and researchers to worry about - it is an issue that touches every single human being on this planet in one way or another. More than anything else, and if nothing else, I hope you find this article thought-provoking.
Shaoyan Chang
Capital Institute of Pediatrics
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This page is a summary of: The effect of folic acid deficiency on FGF pathway via Brachyury regulation in neural tube defects, The FASEB Journal, April 2019, Federation of American Societies For Experimental Biology (FASEB),
DOI: 10.1096/fj.201801536r.
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