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Publication : The interaction of maternal diabetes with mutations that affect folate metabolism and how they affect the development of neural tube defects in mice.

First Author  López-Escobar B Year  2019
Journal  Dev Dyn Volume  248
Issue  10 Pages  900-917
PubMed ID  31361376 Mgi Jnum  J:279365
Mgi Id  MGI:6362299 Doi  10.1002/dvdy.92
Citation  Lopez-Escobar B, et al. (2019) The interaction of maternal diabetes with mutations that affect folate metabolism and how they affect the development of neural tube defects in mice. Dev Dyn 248(10):900-917
abstractText  BACKGROUND: Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTDs) in humans and animal models. Nevertheless, how these two factors might interact in the development of NTDs remains unclear. RESULTS: In specific mouse models and embryo culture systems, we assessed the effects of combining maternal diabetes with mutations in genes involved in folate transport and metabolism (methylenetetrahydrofolate reductase [Mthfr] and folic acid receptor 1 [Folr1]). When maternal hyperglycemia is combined with alterations in folic acid metabolism, there appears to be an increase in the incidence of congenital malformations in the offspring, with NTDs representing the majority of the malformations detected. CONCLUSIONS: The teratogenic effects of diabetes during pregnancy are exacerbated when combined with altered embryonic folate metabolism.
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