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Article

Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice

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Departments of Human Genetics and Pediatrics, McGill University, Montreal, QC H3A 0C7, Canada
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The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada
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Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA
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Division of Human Nutrition, Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, AB T6G 2E1, Canada
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Nutrition Research Division, Health Canada, Ottawa, ON K1A 0K9, Canada
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Department of Biology, Carleton University, Ottawa, ON K1S 5B6, Canada
*
Author to whom correspondence should be addressed.
Academic Editor: Yajun Xu
Nutrients 2022, 14(1), 127; https://doi.org/10.3390/nu14010127
Received: 16 November 2021 / Revised: 23 December 2021 / Accepted: 24 December 2021 / Published: 28 December 2021
(This article belongs to the Special Issue Nutrition and Metabolism in the First 1,000 Days of Life)
Folate and choline are interconnected metabolically. The MTHFD1 R653Q SNP is a risk factor for birth defects and there are concerns that choline deficiency may interact with this SNP and exacerbate health risks. 80–90% of women do not meet the Adequate Intake (AI) for choline. The objective of this study was to assess the effects of choline deficiency on maternal one-carbon metabolism and reproductive outcomes in the MTHFD1-synthetase deficient mouse (Mthfd1S), a model for MTHFD1 R653Q. Mthfd1S+/+ and Mthfd1S+/− females were fed control (CD) or choline-deficient diets (ChDD; 1/3 the amount of choline) before mating and during pregnancy. Embryos were evaluated for delays and defects at 10.5 days gestation. Choline metabolites were measured in the maternal liver, and total folate measured in maternal plasma and liver. ChDD significantly decreased choline, betaine, phosphocholine, and dimethylglycine in maternal liver (p < 0.05, ANOVA), and altered phosphatidylcholine metabolism. Maternal and embryonic genotype, and diet-genotype interactions had significant effects on defect incidence. Mild choline deficiency and Mthfd1S+/− genotype alter maternal one-carbon metabolism and increase incidence of developmental defects. Further study is required to determine if low choline intakes contribute to developmental defects in humans, particularly in 653QQ women. View Full-Text
Keywords: MTHFD1; choline; folate; embryonic development; birth defects; developmental defects; developmental delay MTHFD1; choline; folate; embryonic development; birth defects; developmental defects; developmental delay
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MDPI and ACS Style

Christensen, K.E.; Malysheva, O.V.; Carlin, S.; Matias, F.; MacFarlane, A.J.; Jacobs, R.L.; Caudill, M.A.; Rozen, R. Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice. Nutrients 2022, 14, 127. https://doi.org/10.3390/nu14010127

AMA Style

Christensen KE, Malysheva OV, Carlin S, Matias F, MacFarlane AJ, Jacobs RL, Caudill MA, Rozen R. Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice. Nutrients. 2022; 14(1):127. https://doi.org/10.3390/nu14010127

Chicago/Turabian Style

Christensen, Karen E., Olga V. Malysheva, Stephanie Carlin, Fernando Matias, Amanda J. MacFarlane, René L. Jacobs, Marie A. Caudill, and Rima Rozen. 2022. "Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice" Nutrients 14, no. 1: 127. https://doi.org/10.3390/nu14010127

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