Presence of the 5,10-Methylenetetrahydrofolate Reductase C677T Mutation in Puerto Rican Patients With Neural Tube Defects

• Published in: Journal of child neurology 2002-01, Vol.17 (1), p.30-32
• Main Authors: Garcia-Fragoso, Lourdes, García-García, Inés, de la Vega, Alberto, Renta, Jessicca, Cadilla, Carmen L.
• Format: Article
• Language: English
• Subjects: Adult; Alanine - genetics; Alleles; Amino Acid Substitution - genetics; Female; Genetic Predisposition to Disease - genetics; Hispanic Americans - genetics; Homozygote; Humans; Infant, Newborn; Male; Methylenetetrahydrofolate Dehydrogenase (NADP) - genetics; Mutation - genetics; Neural Tube Defects - diagnosis; Neural Tube Defects - genetics; Pregnancy; Prenatal Diagnosis; Risk; Valine - genetics
• ISSN: 0883-0738; 1708-8283
• DOI: 10.1177/088307380201700107

Folic acid supplementation can reduce the incidence of neural tube defects. The first reported genetic risk factor for neural tube defects is a C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme. We examined the enzyme mutation role of methylenetetrahydrofolate reductase in the etiology of neural tube defects in our population. The study group consisted of 204 Puerto Rican individuals including 37 pregnant females with a prenatal diagnosis of neural tube defects in their fetuses, 31 newborns, 36 fathers, and 100 healthy adults. The prevalence of the C677T mutation was examined. Homozygosity for the alanine to valine substitution (TT) was observed in 9% of the controls and 19% of the mothers with children with neural tube defects. Our results indicate that the presence of the T allele at the methylenetetrahydrofolate reductase 677 position may increase the risk of giving birth to an infant with a neural tube defect. (J Child Neurol 2002;17:30-32).