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Titolo:
The relation between erythrocyte volume and folate levels is influenced bya common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T)
Autore:
Lalouschek, W; Aull, S; Serles, W; Wolfsberger, M; Deecke, L; Pabinger-Fasching, I; Mannhalter, C;
Indirizzi:
Univ Vienna, Sch Med, Dept Med 1, Div Hematol & Hemostaseol, A-1010 Vienna, Austria Univ Vienna Vienna Austria A-1010 & Hemostaseol, A-1010 Vienna, Austria Univ Vienna, Sch Med, Dept Lab Med, Div Mol Biol, A-1010 Vienna, Austria Univ Vienna Vienna Austria A-1010 , Div Mol Biol, A-1010 Vienna, Austria
Titolo Testata:
JOURNAL OF INVESTIGATIVE MEDICINE
fascicolo: 1, volume: 48, anno: 2000, supplemento:, S
pagine: 14 - 20
SICI:
1081-5589(200001)48:1<14:TRBEVA>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
PLASMA TOTAL HOMOCYSTEINE; CORONARY-ARTERY DISEASE; RISK FACTOR; MYOCARDIAL-INFARCTION; COLORECTAL-CANCER; VASCULAR-DISEASE; THERMOLABILE VARIANT; POLYMORPHISM; RECOMMENDATIONS; CHROMATOGRAPHY;
Keywords:
MTHFR mutation; homocysteine; folate; erythrocyte volume; DNA synthesis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
39
Recensione:
Indirizzi per estratti:
Indirizzo: Lalouschek, W Univ Clin Neurol, Wahringer Gurtel 18-20, A-1097 Vienna, Austria Univ Clin Neurol Wahringer Gurtel 18-20 Vienna Austria A-1097
Citazione:
W. Lalouschek et al., "The relation between erythrocyte volume and folate levels is influenced bya common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T)", J INVES MED, 48(1), 2000, pp. 14-20

Abstract

Background: The enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) plays an important role in folate metabolism and folate-dependent reactions. Homozygosity for a common polymorphism in the MTHFR gene (C677T, Ala to Val) is associated with an increased risk of neural tube defects and hyperhomocysteinemia in individuals with low folate levels. Homozygous carriers of the polymorphism with adequate folate levels, on the other hand, seem to be at lower risk for colorectal cancer, Homozygous carriers of the polymorphism (5-15% of the white population) probably represent a subpopulation with increased folate needs. Hematological sequelae of folate deficiency have been recognized for a long time. However, no data exist concerning the relation between the C677T MTHFR polymorphism, folate levels, and hematological parameters. Methods: We investigated associations between the C677T MTHFR polymorphism, folate levels, total plasma homocysteine, and hematological parameters in94 patients with cerebrovascular disease (transient ischemic attack/minor stroke) and in 82 healthy subjects,Results: Homozygous carriers (VV) of the polymorphism with low folate levels showed significantly higher homocysteine levels than mutation-negative (AA) and heterozygous (AV) subjects (P=0.038), Furthermore, VV subjects in the lowest folate quartile exhibited significantly higher mean erythrocyte volumes (MCV) and a tendency towards higher erythrocyte hemoglobin content (MCH) than AA and AV subjects (P=0.008 and 0.069, respectively), Although MCV was not influenced by folate levels in AA and AV subjects, in VV subjectsa significant inverse correlation with folate levels could be demonstrated(P=0.544 and 0.020, respectively). Conclusion: We demonstrate an association between the C677T polymorphism, folate levels, and hematological parameters. The elevation of MCV in homozygous carriers of the polymorphism with low folate levels indicates impairedDNA synthesis and/or methylation In these subjects, Considering our data and the results of previous studies, the polymorphism may have contrary effects on homocysteine metabolism and DNA synthesis/methylation dependent on asubject's folate supply. Although the polymorphism is disadvantageous in homozygous carriers with low folate levels, its presence may be beneficial in individuals with adequate folate supply.

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Documento generato il 17/09/19 alle ore 22:37:18