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From birth to conception. Open or closed
1Department of Obstetrics and Gynaecology, University Hospital, Nijmegen, The Netherlands.
Summary
High homocysteine levels, linked to B-vitamin deficiency or genetic mutations, are associated with birth defects and vascular disease. Folic acid supplementation shows promise in preventing neural tube defects and potentially other conditions.
Area of Science:
- Biochemistry
- Medical Genetics
- Obstetrics
Background:
- Hyperhomocysteinemia is implicated in various adverse health outcomes.
- Neural tube defects (NTDs) and vascular diseases are significant public health concerns.
Purpose of the Study:
- To present research on the role of homocysteine in birth defects and vascular disease.
- To explore the impact of genetic factors and B-vitamins on these conditions.
Main Methods:
- Observational studies investigating homocysteine levels in affected individuals.
- Genetic analysis of methylenetetrahydrofolate reductase (MTHFR) gene mutations.
- Assessment of B-vitamin status, particularly folic acid.
Main Results:
- Elevated plasma homocysteine levels were observed in women with NTD offspring, other birth defects, and vascular disease.
- Lack of folic acid and MTHFR gene mutations (677 C-->T, 1298 A-C) contribute to hyperhomocysteinemia.
- These factors are linked to recurrent pregnancy loss, congenital heart defects, placental abruption, and fetal growth retardation.
Conclusions:
- Inborn errors in methionine-homocysteine metabolism are associated with multiple pregnancy and vascular complications.
- Folic acid supplementation is a key preventive strategy for NTDs and may benefit other conditions.