Abnormal Folate Metabolism and Maternal Risk for Down Syndrome

Pavarino, Érika Cristina; Zampieri, Bruna Lancia; Biselli, Joice Matos; Bertollo, Eny Maria Goloni

doi:10.5772/19373

Cited by 3 publications

(2 citation statements)

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“…However, despite efforts to supplement FA intake in pregnant women, it was found that some mothers who gave birth to children with Down syndrome had an imbalance in folate metabolism, not due to a nutritional deficiency, but due to an important gene mutation, located on the MTHFR gene, called MTHFR C677T mutation [33][34][35].…”

Section: The Role Of Fa In Pregnancymentioning

confidence: 99%

“…Thus, in heterozygous women with the C677T mutation in the MTHFR gene, it was found that there is an increased plasmatic Hcy level, as well as increased cytotoxicity of methotrexate [60]. These women were 2.6 times more likely to give birth to a child with Down syndrome than those without the mutation [35]. These results show that FA deficiency, due to the C677T polymorphism of the MTHFR gene, is implicated in the etiology of non-disjunction of chromosome 21 in the maternal meiosis of young women under the age of 29, for whom the risk of Down syndrome is generally low [61,62].…”

Section: Relationships Between Mthfr C677t Gene Mutation and Maternal...mentioning

confidence: 99%

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Folic Acid and Its Role in Oral Health: A Narrative Review

et al. 2023

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Vitamins, exogenous organic compounds that play a vital role in metabolic reactions, and fundamental powerful antioxidants with a crucial role in the genetic transcription process, are considered essential nutritional factors. Folic acid (FA), also known as folate, or Vitamin B9, plays an indispensable role in various intracellular reactions, being the main pawn, with a strong impact on medical and dental science. The aim of this paper mainly focuses on presenting the latest and most advanced aspects related to the following topics: (1) the resonance that FA, and more specifically FA deficiency, has at the level of the oral cavity; (2) the elements involved in the molecular landscape, which reflect the interaction and the possible mechanisms of action, through which FA influences oral health; and (3) the particular processes by which FA deficiency causes certain clinical conditions. Moreover, we aim to draw the attention and trigger the curiosity of health professionals on the need to know the specific host–environment interactions, particularly the linkage between individual genotype and phenotypic variability, which in the future could represent the basis of novel and effective treatment methods. From this perspective, we begin by providing an overview of the general radar echo of the human body induced by FA deficiency, before focusing on the genetic strategic substrate and biochemical processes involved in the molecular mechanisms through which FA acts at the cellular level. Finally, we reflect on the resulting conclusions: (1) the complex interrelationships between different types of cytokines (CKs) and abnormal folate metabolism are involved in the occurrence of neural tube defects (NTDs) and orofacial clefts (OFCs); (2) increased oxidative stress, endothelial dysfunction, and genomic instability, induced by folate deficiency, have a major impact on periodontal health; and (3) glutamate carboxypeptidase II, GCP2 1561C>T allelic variant, constitutes the main pawn, which specifically influences the bioavailability of natural folates and FA, as the main actors, with essential roles in oral health.

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Section: The Role Of Fa In Pregnancymentioning

confidence: 99%

Section: Relationships Between Mthfr C677t Gene Mutation and Maternal...mentioning

confidence: 99%

Folic Acid and Its Role in Oral Health: A Narrative Review

et al. 2023

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An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Polish Population

Ziółkowska

Toboła-Wróbel

Pietryga

et al. 2022

JCM

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Are the maternal gene variants MTHFR: c.665C>T, MTHFR: c.1286A>C, MTR: c.2756A>G, MTRR: c.66A>G, RFC1: c.80C>T and TCN2: c.776G>C and blood markers of the folate pathway important factors in assessing the risk of fetal trisomy 21 (fetal-T21)? Twenty pregnant women with a high risk and twenty with a low risk of fetal-T21 underwent prenatal examination. Selected gene variants and folate pathway markers and pregnancy-associated plasma protein A (PAPP-A) and free β-subunit of human chorionic gonadotropin β (free-β-hCG) multiple of the medians (MoMs) were determined. The distributions of the alternative alleles and genotypes of the gene variants did not differ between the studied groups. There was no relationship between PAPP-A and β-hCG MoM values and the presence of allele alternative genotype variants. The occurrence of alternative variants of the selected genes and concentrations of most of the studied folate pathway markers may not play a crucial role in the risk of fetal-T21 in pregnant women. However, the relationships between erythrocyte folate concentrations and the occurrence of alternative variants: c.665C>T MTHFR and c.776G>C TCN2, as well as the methylmalonic acid concentration and the occurrence of alternative variant c.776G>C TCN2 in pregnant women with fetal-T21, encourage further research. So far, of the biochemical markers, maternal PAPP-A and β-hCG MoM values remain independent risk factors for fetal-T21.

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