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Christensen KE, Malysheva OV, Carlin S, et al. Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice. Nutrients. 2021;14(1)doi: 10.3390/nu14010127.
Christensen, K. E., Malysheva, O. V., Carlin, S., Matias, F., MacFarlane, A. J., Jacobs, R. L., Caudill, M. A., & Rozen, R. (2021). Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice. Nutrients, 14(1), . https://doi.org/10.3390/nu14010127
Christensen, Karen E, et al. "Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice." Nutrients vol. 14,1 (2021). doi: https://doi.org/10.3390/nu14010127
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. 2021 Dec 28;14(1). doi: 10.3390/nu14010127. PMID: 35011003.
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Nutrients. 2021 Dec 28;14(1). doi: 10.3390/nu14010127.

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

Nutrients

Karen E Christensen, Olga V Malysheva, Stephanie Carlin, Fernando Matias, Amanda J MacFarlane, René L Jacobs, Marie A Caudill, Rima Rozen

Affiliations

  1. Departments of Human Genetics and Pediatrics, McGill University, Montreal, QC H3A 0C7, Canada.
  2. The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.
  3. Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA.
  4. Division of Human Nutrition, Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, AB T6G 2E1, Canada.
  5. Nutrition Research Division, Health Canada, Ottawa, ON K1A 0K9, Canada.
  6. Department of Biology, Carleton University, Ottawa, ON K1S 5B6, Canada.

PMID: 35011003 DOI: 10.3390/nu14010127

Abstract

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 (

Keywords: MTHFD1; birth defects; choline; developmental defects; developmental delay; embryonic development; folate

Publication Types

Grant support