Related Experiment Video
Updated: Apr 23, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
Published on: June 28, 2024
Folate Metabolism and Human Reproduction
1Department and Outpatient Clinic for Gynaecology and Obstetrics, Hospital of the Ludwig Maximilian University of Munich, Großhadern Campus, Hormone & Fertility Centre Großhadern, Munich ; Department and Outpatient Clinic for Gynaecology and Obstetrics, Hospital of the Ludwig Maximilian University of Munich, City Centre Campus, Hormone & Fertility Centre City Centre, Munich.
Folic acid supplementation impacts fertility and pregnancy outcomes, particularly for individuals with MTHFR mutations. Higher doses may mitigate negative effects on ovarian stimulation and oocyte retrieval in these patients.
Area of Science:
- Reproductive Endocrinology
- Nutritional Biochemistry
- Maternal-Fetal Medicine
Background:
- Folate metabolism is crucial for reproductive success, influencing implantation, embryogenesis, and pregnancy.
- Deficiencies in folic acid and elevated homocysteine are linked to recurrent spontaneous abortions and pregnancy complications.
- Folate levels correlate with pregnancy outcomes in IVF/ICSI patients, including twin pregnancy rates.
Purpose of the Study:
- To investigate the impact of folic acid supplementation and MTHFR genotype on ovarian response and fertility outcomes.
- To determine optimal folic acid dosage for women undergoing assisted reproductive technologies, especially those with MTHFR mutations.
- To clarify the relationship between MTHFR genotype, AMH levels, and oocyte retrieval efficiency.
Main Methods:
- Analysis of plasma folate concentrations in infertile patients undergoing IVF/ICSI.
- Assessment of ovarian response (estradiol levels, oocyte retrieval) in patients supplemented with folic acid, stratified by MTHFR 677T/TT genotype.
- Measurement of Anti-Müllerian Hormone (AMH) concentrations in relation to MTHFR genotype and supplementation.
Main Results:
- MTHFR 677T carriers receiving 0.4 mg/day folic acid showed reduced estradiol and fewer oocytes during ovarian hyperstimulation.
- Increasing folic acid to 0.8 mg/day appeared to compensate for these negative effects.
- AMH concentrations were significantly increased in MTHFR 677TT genotype carriers with appropriate supplementation, suggesting a compensatory mechanism.
- Oocyte retrieval per AMH unit was lower in MTHFR 677TT individuals compared to wild-type, indicating potential overestimation of ovarian reserve.
Conclusions:
- Folic acid supplementation, particularly higher doses (≥0.8 mg/day), is essential for optimizing fertility outcomes in patients with MTHFR mutations undergoing IVF/ICSI.
- MTHFR genotype influences ovarian response to stimulation and the interpretation of AMH levels in fertility assessments.
- Personalized folic acid supplementation strategies may improve success rates in assisted reproduction.
More Related Videos
Related Concept Videos
Biosynthesis of Nucleic Acids
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Factors Affecting Drug Biotransformation: Biological
Species differences: Variations in enzyme systems across species can cause disparities in drug metabolism. For instance, humans may metabolize certain drugs faster than rodents, altering therapeutic effects.
Strain differences: Genetic variations within a species can result in differing enzyme activity, impacting drug response and toxicity. For example, some mouse strains may...
Teratogenicity
Pharmacogenetics of Drug Metabolism: Overview
Oogenesis

