This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Garcia-Fragoso, L. Articles by Cadilla, C. L. Search for Related Content PubMed PubMed Citation Articles by Garcia-Fragoso, L. Articles by Cadilla, C. L. Social Bookmarking                         What's this?

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

Department of Pediatrics, Neonatology Section, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, Puerto Rico, loufrag{at}yahoo.com

Inés García-García, MD

Department of Pediatrics, Neonatology Section, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, Puerto Rico

Alberto de la Vega, MD

Department of Obstetrics and Gynecology, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, Puerto Rico

Jessicca Renta, MS

Department of Biochemistry, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, Puerto Rico

Carmen L. Cadilla, PhD

Department of Biochemistry, University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, Puerto Rico

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).

Journal of Child Neurology, Vol. 17, No. 1, 30-32 (2002)
DOI: 10.1177/088307380201700107


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?