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The effect of 677C → T and 1298A → C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects

Published online by Cambridge University Press:  09 March 2007

A. Chango ,
A. Chango ,
F. Boisson ,
F. Barbé ,
D. Quilliot ,
S. Droesch ,
M. Pfister ,
N. Fillon-Emery ,
D. Lambert  and
S. Frémont
...Show all authors
A. Chango*
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France Laboratoire de Biochimie A, CHU Nancy Vandœuvre, France
A. Chango*
Affiliation:
Laboratoire de Biochimie A, CHU Nancy Vandœuvre, France
F. Boisson
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France
F. Barbé
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France Laboratoire de Biochimie A, CHU Nancy Vandœuvre, France
D. Quilliot
Affiliation:
Centre d'Investigation Clinique INSERM-CHU, Nancy, France
S. Droesch
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France
M. Pfister
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France
N. Fillon-Emery
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France
D. Lambert
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France
S. Frémont
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France Laboratoire de Biochimie A, CHU Nancy Vandœuvre, France
D. S. Rosenblatt
Affiliation:
Division of Medical Genetics, Department of Medicine, McGill University, Montréal, Québec, Canada
J. P. Nicolas
Affiliation:
Laboratoire de Biochimie Médicale et Pédiatrique, INSERM U-308, Nancy, France Laboratoire de Biochimie A, CHU Nancy Vandœuvre, France
*
*Corresponding author: Dr A. Chango, fax +33 3 83 59 27 18, email [email protected]
*Corresponding author: Dr A. Chango, fax +33 3 83 59 27 18, email [email protected]
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Abstract

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We have studied the effect of common mutations (677C → T and 1298A → C) of the methylenetetrahydrofolate reductase (MTHFR) gene in sixty-six healthy French subjects, aged 27–47 years. Serum folate, vitamin B12, and plasma total homocysteine were measured as well as the specific activity of MTHFR in lymphocytes. The frequency of subjects homozygous for the 677TT genotype was 18 %, and that of those homozygous for the 1298CC genotype was 12·5 %. The frequency of individuals heterozygous for both mutations was 23·5 %. The 1298A → C mutation was associated with decreased MTHFR specific activity in subjects with both 677CC and 677CT genotypes. This activity was 60 % for the 677CC/1298AC genotype and 52 % for the 677CC/1298CC genotype when compared with the MTHFR specific activity of the 677CC/1298AA genotype. Heterozygotes for both mutations (677CT/1298AC genotype) had 36 % of the reference specific activity. Although homocysteine levels in 677TT and 1298CC genotype subjects were higher than for other genotypes, no significant differences were observed among different genotypes. This may be due to high serum folate level in our samples, and suggests that folate therapy may be useful to prevent hyperhomocysteinaemia in homozygous mutant subjects.

Keywords

FolateHomocysteineMethylenetetrahydrofolate reductasePolymorphism
Type
Short Communication
Information
British Journal of Nutrition , Volume 83 , Issue 6 , June 2000 , pp. 593 - 596
Copyright
Copyright © The Nutrition Society 2000

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