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Instituto Bernabeu investigates whether embryos are affected by mutations in the gene that metabolises folic acid

09-09-2021

Instituto Bernabeu investigates whether embryos are affected by mutations in the gene that metabolises folic acid

A study by the Instituto Bernabeu has examined the effect of two mutations in the gene involved in the metabolism of folic acid. The reason for the study is that it has been shown that folic acid deficiency may be related to reproductive problems. The researchers’ baseline assumption is that the two most studied mutations in the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, are associated with infertility, miscarriage and problems during pregnancy. Moreover, recent work has also linked them to chromosomal alterations in embryos.

The clinic has carried out an exhaustive study in which 77 patients underwent an IVF cycle during which a chromosomal analysis of the embryos  was performed (PGT-A). In their conclusions, the researchers at the Instituto Bernabeu report that the C677T and A1298C mutations in the MTHFR gene do not appear to be associated with chromosomal abnormalities in embryos or with poorer IVF cycle outcomes, such as implantation, pregnancy loss or ongoing pregnancy.

This research has been published by the scientific journal Systems Biology in Reproductive Medicine.

Methylenetetrahydrofolate reductase gene polymorphisms are not associated with embryo chromosomal abnormalities and IVF outcomes

R. Morales, B. Lledó, JA. Ortiz, A. Cascales, H. Codina, A. Rodríguez-Arnedo, J.LL. Aparicio, A. Bernabeu, R. Bernabeu

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