An Examination of Polymorphic Genes and Folate Metabolism in Mothers Affected by a Spina Bifida Pregnancy

Lucock, Mark; Daskalakis, Ioannis; Hinkins, Matthew; Yates, Zoë

doi:10.1006/mgme.2001.3205

Cited by 31 publications

(23 citation statements)

References 24 publications

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“…Plasma and red cell folate along with vitamin B 12 were measured using chemiluminescent immunoassay (Access Immunoassay System, Beckman Instruments, Inc). Erythrocyte folate coenzyme species were also extracted and measured using HPLC according to Lucock et al (2001).…”

Section: Discussionmentioning

confidence: 99%

G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism

Yates

Lucock

2005

Life Sciences

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Section: Discussionmentioning

confidence: 99%

G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism

Yates

Lucock

2005

Life Sciences

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“…In a Polish study the association between the MTRR 66GG genotype and NTD risk was found to be confined to lumbosacral NTD . In other studies (Wilson et al 1999;Lucock et al 2001;Gos et al 2004;O'Leary et al 2005) the MTRR 66GG genotype was not found to be significantly associated with NTD risk for mothers and their children. In contrast to the previously discussed data, Relton et al (2004a,b) have designated the A allele as a risk factor for NTD; however, the MTRR genotype distribution was not in Hardy-Weinberg equilibrium.…”

Section: Methionine Synthasementioning

confidence: 99%

Genetic variation in genes of folate metabolism and neural-tube defect risk

et al. 2006

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Neural-tube defects (NTD) are common congenital malformations that can lead to severe disability or even death. Periconceptional supplementation with the B-vitamin folic acid has been demonstrated to prevent 50-70% of NTD cases. Since the identification of the first genetic risk factor of NTD, the C677T single-nucleotide polymorphism (SNP) in the methylenetetrahydrofolate reductase (MTHFR) gene, and the observation that elevated plasma homocysteine levels are associated with NTD, research has focused on genetic variation in genes encoding for enzymes of folate metabolism and the closely-related homocysteine metabolism. In the present review relevant SNP in genes that code for enzymes involved in folate transport and uptake, the folate cycles and homocysteine metabolism are summarised and the importance of these SNP discussed in relation to NTD risk.

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“…The mean concentrations of total homocysteine in blood and the concentrations of folate and vitamins B 12 and B 6 in blood and amniotic fluid were not significantly different between the groups. The mean concentrations of homocysteine and vitamin B 6 were significantly lower in amniotic fluid than in blood in both groups, whereas vitamin B 12 was higher in amniotic fluid than in blood [19]. This study is the first to investigate a major collagen amino acid.…”

Section: Resultsmentioning

confidence: 99%

“…Epidemiological studies have suggested that environmental and genetic factors play an important role in the causation of NTD. To date, few specific environmental causes of NTD have been recognized: deficiencies of essential nutrients such as trace elements [1][2][3], vitamin B 12 [4], folic acid [5][6][7] and its derivatives [8][9][10], and excess intake of vitamin A [11]. Decreased antioxidant enzyme levels have also been implicated in the pathophysiology of NTD [12,13].…”

Section: Introductionmentioning

confidence: 99%

Maternal Serum and Amniotic Fluid Hydroxyproline Levels in Neural Tube Defects

Özyurt

Totan²,

Şahín³

et al. 2003

Fetal Diagn Ther

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Objective: The present study was aimed to evaluate the alterations of maternal serum and amniotic fluid OH- proline levels in neural tube defects (NTD). Methods: 38 patients and 23 control subjects were selected from the patients followed up by the Departments of Genetics and Antenatal Care, Zekai Tahir Burak Women’s Health, Education and Research Hospital. Amnion fluid and blood samples were synchronously obtained from NTD and control subjects. OH-proline levels were detected spectrophotometrically. Results: Amniotic fluid OH-proline levels were found to be increased in NTD patients compared to control subjects (p < 0.05). There was no statistically significant difference in serum OH-proline levels between the groups. Conclusion: The results showed an increase in amniotic fluid OH-proline levels in NTD compared to the control group. It may be suggested that the increased OH-proline levels reflect increased collagen turnover in NTD patients. Indeed, amniotic fluid OH-proline levels may be a candidate as an additional diagnostic parameter in NTD.

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An Examination of Polymorphic Genes and Folate Metabolism in Mothers Affected by a Spina Bifida Pregnancy

Cited by 31 publications

References 24 publications

G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism

G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism

Genetic variation in genes of folate metabolism and neural-tube defect risk

Maternal Serum and Amniotic Fluid Hydroxyproline Levels in Neural Tube Defects

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