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Abstract:

Hyperhomocysteinemia (HHcy) is an independent risk factor for atherothrombotic diseases. Folic acid, vitamin B12 and the enzyme methylene-tetrahydrofolate reductase (MTHFR) are some of the components involved in homocysteine (Hcy) metabolism. The aim of the present study was to evaluate the clinical usefulness of homocysteinemia determination and the C677T polymorphism analysis of the MTHFR. Homocysteine (ELISA); folic acid and vitamin B12 levels (chemiluminescence) and C677T polymorphism of the MTHFR (PCR-RFLP) were evaluated in 112 healthy subjects. Twenty-five per cent of the population showed hyperhomocysteinemia (Hcy > 15 μM). Hcy levels in subjects with folate or B12 deficiency were significantly higher than those found in non deficient individuals (mean: 15.8 μM or 15.6 μM vs 12.5 μM). Homozygote subjects (TT) showed higher Hcy levels than heterozygote and normal individuals (14.5 μM, 13.3 μM and 12.5 μM, respectively). Forty per cent of the B12 deficient subjects, fifty-four per cent of the folate deficient individuals, forty-three per cent of the MTHFR-TT subjects and a hundred per cent of the MTHFR-TT individuals with B12 deficiency turned out to be hyperhomocysteinemic. Therefore, homocysteinemia determination could evidence the presence of an atherothrombotic risk factor and likely vitamin deficiencies. Moreover, MTHFR polymorphism determination makes it possible to detect an important genetic factor of hyperhomocysteinemia. © 2007 Federación Bioquímica de la Provincia de Buenos Aires.

Registro:

Documento: Artículo
Título:Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase
Autor:Castañon, M.M.; Lauricella, A.M.; Genoud, V.; Quintana, I.L.
Filiación:Universidad de Buenos Aires, Área Ciencias Químicas, Argentina
Pabellón II, Ciudad Universitaria, Int. Güiraldes 2160, C1428EHA Cd. Auton. de Buenos Aires, Argentina
Palabras clave:Folic acid; Hyperhomocysteinemia; Methylenetetrahydrofolate reductase; Vitamin B12
Año:2006
Volumen:40
Número:3
Título revista:Acta Bioquimica Clinica Latinoamericana
Título revista abreviado:Acta Bioquim. Clin. Latinoam.
ISSN:03252957
CODEN:ABCLD
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v40_n3_p_Castanon

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Citas:

---------- APA ----------
Castañon, M.M., Lauricella, A.M., Genoud, V. & Quintana, I.L. (2006) . Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase . Acta Bioquimica Clinica Latinoamericana, 40(3).
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v40_n3_p_Castanon [ ]
---------- CHICAGO ----------
Castañon, M.M., Lauricella, A.M., Genoud, V., Quintana, I.L. "Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase " . Acta Bioquimica Clinica Latinoamericana 40, no. 3 (2006).
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v40_n3_p_Castanon [ ]
---------- MLA ----------
Castañon, M.M., Lauricella, A.M., Genoud, V., Quintana, I.L. "Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase " . Acta Bioquimica Clinica Latinoamericana, vol. 40, no. 3, 2006.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v40_n3_p_Castanon [ ]
---------- VANCOUVER ----------
Castañon, M.M., Lauricella, A.M., Genoud, V., Quintana, I.L. Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase . Acta Bioquim. Clin. Latinoam. 2006;40(3).
Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v40_n3_p_Castanon [ ]