The effect of C677T mutation of methylene tetrahydrofolate reductase gene and plasma folate level on hyperhomocysteinemia in patients with meningomyelocele

To evaluate the relationship between genotypes of methylene tetrahydrofolat e reductase (MTHFR), and plasma folate and homocysteine (Hcy) levels in men ingomyelocele, 21 Korean patients, 47 of their family members, and 43 healt hy controls were recruited. The presence of C677T mutation in the MTHFR gen e and plasma concentrations of folate/Hcy were investigated. The genotype f requency of C677T mutation was not higher in study groups (patients and fam ily members). The plasma folate concentration showed no difference either b etween the study and the control groups or among MTHFR-genotypic groups. Th e plasma Hey concentration in homozygotes in the study group was higher tha n that in the control group, and higher than that in heterozygotes when pla sma folate levels were low (P = 0.006). Although neither MTHFR genotype nor plasma folate/Hcy level plays a definite part on its own, they seem to hav e an additive effect on the occurrence of meningomyelocele. Our results sup port folate supplementation for the prevention of hyperhomo-cysteinemia and meningomyelocele.