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Significance Periconceptional supplementation with folic acid (FA) has reduced the prevalence of neural tube defects (NTDs) in numerous global populations; however, more than 30% of NTDs remain FA resistant. Previous in vitro studies identifiedSlc25a32 -encoding mitochondrial folate transporter that delivers tetrahydrofolate across the mitochondrial membrane. Herein, we provide the original description of transgenicSlc25a32 gene trapped (Slc25a32gt/gt ) knockout mice, who present with 100% penetrant NTDs. We demonstrate that formate supplementation rescues normal neural tube closure in the majority (78%) ofSlc25a32 gt/gt embryos, whereas 5-methyltetrahydrofolate was not effective. Additionally, biallelicSLC25A32 loss-of-function mutations were identified in a human NTD case. Our findings add an NTD mouse model to several others that benefit developmentally from maternal formate supplementation.

Formate rescues neural tube defects caused by mutations in Slc25a32