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Record W4412628242 · doi:10.1016/j.tjnut.2025.07.013

Contrasting Effects of Phosphatidylcholine and Betaine Supplementation on Embryonic Development in a Mouse Model of the MTHFD1 R653Q Variant

2025· article· en· W4412628242 on OpenAlexafffund
Karen E. Christensen, Marie-Lou Faquette, Vafa Keser, Teodoro Bottiglieri, Rima Rozen

Bibliographic record

VenueJournal of Nutrition · 2025
Typearticle
Languageen
FieldMedicine
TopicFolate and B Vitamins Research
Canadian institutionsMcGill University Health Centre
FundersCanadian Institutes of Health Research
KeywordsBetainePhosphatidylcholineEmbryogenesisEmbryonic stem cellBiologyCholineBiochemistryChemistryEmbryoCell biologyGeneticsPhospholipidGene

Abstract

fetched live from OpenAlex

Background Folate and choline are interconnected nutrients important for embryonic development. Genetic variants in folate enzymes, such as MTHFD1 R653Q (c.1958 G>A, rs2236225), may increase dietary choline requirements. Objective To evaluate impact of phosphatidylcholine or betaine supplementation on embryonic development and maternal choline metabolism in the Mthfd1S +/- mouse model for the MTHFD1 653QQ genotype. Methods Female Mthfd1S +/+ (WT) and Mthfd1S +/- (HET) mice were fed amino acid-defined control (Ctrl), phosphatidylcholine-supplemented (PtdCho) or betaine-supplemented (BTN) diets for 4-6 weeks before mating and during pregnancy (18-33 mice/group). Ctrl contained 2.5 g choline bitartrate/kg diet (based on AIN-93G). Supplemented diets contained additional phosphatidylcholine or betaine to obtain the molar equivalent of three times the free choline of Ctrl. Embryos were examined for anatomical developmental delays and morphological defects at embryonic day 10.5. One-carbon metabolites (homocysteine, choline, betaine, methionine, cystathionine, S-adenosylmethionine (SAM), S-adenosylhomocysteine (SAH)) were measured in maternal plasma and liver by LC-MS/MS. MTHFR protein in maternal liver was assessed by Western blot. Data were analyzed by binary logistic regression or 2-way ANOVA. Results PtdCho increased developmental delays, versus Ctrl, in litters of WT (170%) and HET (125%) mothers ( P diet <0.05). BTN decreased delays 53% versus Ctrl in HET mother’s litters ( P diet(HET) <0.05). Defects decreased 71% in BTN-fed HET mother’s litters compared to WT ( P <0.05). BTN increased total pregnancy losses 360% ( P diet <0.01); PtdCho had no effect. Both diets decreased maternal plasma homocysteine (30-50%, P diet <0.05), increased liver betaine (220-290%, P diet <0.0001) and decreased SAM/SAH (WT: 20-30%, HET: 48-61%, P diet <0.05). MTHFR protein expression decreased 25% in PtdCho maternal liver ( P diet <0.01). Conclusions Phosphatidylcholine and betaine supplementation had contrasting effects on reproductive outcomes. Phosphatidylcholine increased developmental delays. Betaine reduced delays and defects in the Mthfd1S +/- mouse model, but may impair establishment of pregnancy. The timing, form and dosage of choline supplementation may be important and require further investigation.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.000
Science and technology studies0.0000.001
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0020.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.016
GPT teacher head0.301
Teacher spread0.285 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

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Citations0
Published2025
Admission routes2
Has abstractno

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