The birth incidence of neural tube defects (NTDs) in South Africa is threefold to sixfold higher in rural compared with urban blacks.
We investigated whether folate deficiency and aberrant homocysteine metabolism could explain the high NTD incidence in rural black populations.
Plasma folate and total homocyst (e) ine (tHcy) concentrations were determined in apparently healthy rural black women In=107), rural black women with a history of pregnancy complicated by NTDs (n=54), and urban blacks In=101).
Methionine load tests were performed on the 54 women with a history of NTD-affected pregnancy and 54 controls matched for age and body mass.
The presence of the 677C - T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene was investigated in both groups by a polymerase chain reaction (PCR) of genomic DNA and Hinfl digestion of the PCR product.
Apparently healthy urban black women In=101) had a lower (P<. 001) plasma folate concentration compared with rural black women In=107).
Women with a history of NTD-affected pregnancy did not differ significantly from controls with respect to plasma folate, fasting homocyst (e) ine, methionine, and the post-methionine load increase in plasma homocyst (e) ine.
More than 50% of both of the latter groups had a post-methionine load increase in plasma tHcy less than the fifth percentile as observed in a healthy white control group. (...)
Mots-clés Pascal : Malformation, Tube neural, Spina bifida, Facteur risque, Homocystéine, Folate, Déficit, Gestation, Methylenetetrahydrofolate reductase (NADPH), Oxidoreductases, Enzyme, Gène, Mutation, Etat nutritionnel, Vitamine, Zone rurale, Zone urbaine, Négroïde, Race, République Sud Africaine, Afrique, Femelle, Homme, Mère pathologie, Métabolisme pathologie, Foetus pathologie, Nouveau né pathologie, Génétique, Système ostéoarticulaire pathologie, Rachis pathologie, Maladie congénitale
Mots-clés Pascal anglais : Malformation, Neural tube, Spina bifida, Risk factor, Folate, Deficiency, Pregnancy, Methylenetetrahydrofolate reductase (NADPH), Oxidoreductases, Enzyme, Gene, Mutation, Nutritional status, Vitamin, Rural area, Urban area, Negroid, Race, South Africa(Republic), Africa, Female, Human, Maternal diseases, Metabolic diseases, Fetal diseases, Newborn diseases, Genetics, Diseases of the osteoarticular system, Spine disease, Congenital disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0147170
Code Inist : 002B15F. Création : 16/11/1999.