Introduction: Recurrent pregnancy loss (RPL) is a discrete disorder, which is defined as loss of two or more clinically recognized pregnancies. The increasing incidence of RPL in recent days may be due to, chromosomal and congenital abnormalities, antiphospholipid syndrome, uterine anomalies, hereditary thrombophilia, autoimmunity and environmental factors, but the cause of RPL still remains undetermined in the majority of cases.Folate deficiency is one the causes for congenital abnormalities which may leads to pregnancy losses. Any deficiency in the folate metabolic pathway leads to low levels of folate, which has been associated with abnormalities in both mothers (anemia) and fetuses (congenital abnormalities). Also it is associated with increased homocysteine levels which may contribute in these conditions1.
Objectives: Study of folate metabolism status in RPL by correlating the association between 5, 10-methylenetetrahydrofolate reductase gene (MTHFR)
Data Sources: Data from Pubmed, EMBASE, MEDLINE and many other data baseswere searched. Similar strategy were applied for each article search.
Study selection: the review was restricted to studies on recurrent pregnancy loss, Folate metabolism, MTHFR gene and study statistics.
Results:A hypothesis was drawn from different studies and a positive link was observed in MTHFR gene alleles mutation, hyperhomocysteinaemia and recurrent pregnancy loss.
Conclusion:Understanding the molecular genetics of folate metabolic pathway will provide newer avenues in the effective management of pregnancy losses due to low folate level (in MTHFR gene polymorphism) with supplementation of folic acid or L-methylfolate.
Key words: Genetic Variation, Folate metabolism, MTHFR (5, 10-methylenetetrahydrofolate reductase gene)
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