5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylation

[...]both MTHFR mutations, when in the homozygous state, affected DNA methylation status, although the effects were slightly less pronounced for the 1298A->C transversion. There is a growing body of evidence highlighting the role that aberrant DNA methylation plays on promotion of disease. 25- 33...

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Bibliographic Details
Published in:Journal of medical genetics 2004-06, Vol.41 (6), p.454-458
Main Authors: Castro, R, Rivera, I, Ravasco, P, Camilo, M E, Jakobs, C, Blom, H J, de Almeida, I T
Format: Article
Language:English
Subjects:
10-methylenetetrahydrofolate reductase
95% CI
95% confidence intervals
AdoHcy
AdoMet
Adult
Aged
Biological and medical sciences
Blood
Deoxycytosine Nucleotides - metabolism
Deoxyribonucleic acid
DNA
DNA - genetics
DNA - metabolism
DNA hypomethylation
DNA Methylation
Erythrocytes
Female
Gene expression
General aspects. Genetic counseling
Genetic testing
Genotype
Hcy
homocysteine
Humans
Letter to JMG
Male
Medical genetics
Medical sciences
Metabolism
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Middle Aged
Molecular weight
MTHFR
MTHFR mutations
Mutation
Point Mutation
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Portugal
Proteins
S-adenosylhomocysteine
S-adenosylmethionine
Studies
tHcy
total homocysteine
Vitamin B
Citations: Items that cite this one
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Summary:[...]both MTHFR mutations, when in the homozygous state, affected DNA methylation status, although the effects were slightly less pronounced for the 1298A->C transversion. There is a growing body of evidence highlighting the role that aberrant DNA methylation plays on promotion of disease. 25- 33 It is well established that abnormal DNA methylation patterns are associated with carcinogenesis. 27, 30- 33 Recent observations have suggested a similar pathogenic mechanism for the occurrence of vascular disease. 25- 28 Accordingly, several pieces of evidence have suggested that MTHFR play a role in both cancer and vascular disease. 26, 29, 31- 33 Our data suggest that the 1298CC MTHFR genotype, independent of folate availability, and the 677TT MTHFR genotype with concomitant folate inadequate levels, might be potential risk factors of disease states associated with DNA hypomethylation status. [...]special attention should be devoted to their possible impact on disease promotion.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2003.017244