A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?

Recently, we showed that homozygosity for the common 677(C→T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for neural-tube defects (NTDs). We now report on another mutation in the same gene, the 1298(A→C) mutation, which cha...

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Veröffentlicht in:American journal of human genetics 1998-05, Vol.62 (5), p.1044-1051
Hauptverfasser: van der Put, Nathalie M.J., Gabreëls, Fons, Stevens, Erik M.B., Smeitink, Jan A.M., Trijbels, Frans J.M., Eskes, Tom K.A.B., van den Heuvel, Lambert P., Blom, Henk J.
Format: Artikel
Sprache:eng
Schlagworte:
Adenine
Adult
Biological and medical sciences
Cytosine
Female
Folate
Homocysteine
Homocysteine - blood
Humans
Male
Malformations of the nervous system
Medical sciences
Methylenetetrahydrofolate reductase
Methylenetetrahydrofolate Reductase (NADPH2)
Middle Aged
Neural Tube Defects - enzymology
Neural Tube Defects - genetics
Neural-tube defects
Neurology
Oxidoreductases Acting on CH-NH Group Donors - genetics
Oxidoreductases Acting on CH-NH Group Donors - metabolism
Point Mutation
Prevalence
Pyridoxine - blood
Risk factor
Vitamin B 12 - blood
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Zusammenfassung:Recently, we showed that homozygosity for the common 677(C→T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for neural-tube defects (NTDs). We now report on another mutation in the same gene, the 1298(A→C) mutation, which changes a glutamate into an alanine residue. This mutation destroys an MboII recognition site and has an allele frequency of .33. This 1298(A→C) mutation results in decreased MTHFR activity (one-way analysis of variance [ANOVA] P
ISSN:0002-9297
1537-6605
DOI:10.1086/301825