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1: Lancet. 1995 Oct 21;346(8982):1070-1.Links
Comment in:
Lancet. 1995 Dec 23-30;346(8991-8992):1703.
Lancet. 1995 Dec 2;346(8988):1495-6.
Lancet. 1996 Feb 3;347(8997):340.

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.

van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ.

Department of Pediatrics, University Hospital Nijmegen, Netherlands.

Periconceptional folate supplementation reduces the risk of neural-tube defects. We studied the frequency of the 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in 55 patients with spina bifida and parents of such patients (70 mothers, 60 fathers). 5% of 207 controls were homozygous for the 677C-->T mutation compared with 16% of mothers, 10% of fathers, and 13% of patients. The mutation was associated with decreased MTHFR activity, low plasma folate, and high plasma homocysteine and red-cell folate concentrations. The 677C-->T mutation should be regarded as a genetic risk factor for spina bifida.

PMID: 7564788 [PubMed - indexed for MEDLINE]

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