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Titolo:
Genetic defects as important factors for moderate hyperhomocysteinemia
Autore:
Geisel, J; Zimbelmann, I; Schorr, H; Knapp, JP; Bodis, M; Hubner, U; Herrmann, W;
Indirizzi:
Hosp Univ Saarland, Dept Clin Chem, Homburg, Germany Hosp Univ Saarland Homburg Germany nd, Dept Clin Chem, Homburg, Germany
Titolo Testata:
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
fascicolo: 8, volume: 39, anno: 2001,
pagine: 698 - 704
SICI:
1434-6621(200108)39:8<698:GDAIFF>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
METHYLENETETRAHYDROFOLATE REDUCTASE GENE; METHIONINE SYNTHASE REDUCTASE; NEURAL-TUBE DEFECTS; VASCULAR-DISEASE; COMMON MUTATION; HOMOCYSTEINE CONCENTRATIONS; RISK FACTOR; FOLATE; DEFICIENCY; COBALAMIN;
Keywords:
genetics; moderate hyperhomocysteinemia; methylenetetrahydrofolate reductase; methionine synthase; methionine synthase redutase; cystathionine-beta-synthase;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Geisel, J Univ Saarlandes Kliniken, Klin Chem Zent Lab, Kirrbergerstr, D-66421 Homburg, Germany Univ Saarlandes Kliniken Kirrbergerstr Homburg Germany D-66421
Citazione:
J. Geisel et al., "Genetic defects as important factors for moderate hyperhomocysteinemia", CLIN CH L M, 39(8), 2001, pp. 698-704

Abstract

The genes for the enzymes methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MS), methionine synthase reductase (MSR) and cytathionine-beta -synthase (CBS) play an important role in homocysteine metabolism. Rare mutations in these genes cause severe hyperhomocysteinemia and clinical symptoms. Growing interest has focused on common mutations with moderate effects on homocysteine levels. We studied 280 subjects of different age groups for the following mutations: MTHFR677C -->T and 1298A -->C, MS2756A -->G, MSR66A -->G and the 68 bp insertion in the CBS gene. The median value forhomocysteine increased significantly with age (median homocysteine levels:7.5,12.4 and 16.5 mu mol/l in the age groups 20-43, 65-75 and 85-96 years,respectively). The genotypes of the MTHFR677C -->T mutation were associated with differences in plasma homocysteine levels, but without reaching significance. Individuals homozygous for the MTHFR677C -->T mutation had a 2.3 mu mol/l higher median homocysteine level compared to individuals with the wild-type allele. This effect was pronounced in combination with low folatelevels and abolished with higher folate in plasma. For the other three mutations no association with homocysteine values could be determined. The analysis of homocysteine metabolite cystathionine by backward regression analysis revealed a significant correlation of the MS2756A -->G mutation with cystathionine level. This increase could indicate a disturbed remethylation. In summary, larger and homogeneous study populations are necessary to quantify the small effects of common mutations on homocysteine levels. This may also be the reason that no effects of genetic interactions between two genotypes were observed.

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Documento generato il 06/04/20 alle ore 01:36:51