Artículo
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 |
Referencias:
- Homocysteine and risk of ischemic heart disease and stroke: A meta-analysis (2002) JAMA, 288, pp. 2015-2022. , Homocysteine Studies Collaboration
- Lentz, S.R., Mechanisms of homocysteine-induced atherothrombosis (2005) J Thromb Haemost, 3, pp. 1646-1654
- Lauricella, A.M., Quintana, I.L., Castañon, M.M., Sassetti, B., Kordich, L.C., Influence of homocysteine on fibrin networks lysis, , Blood Coagul Fibrinolysis. Artículo en prensa
- Finkelstein, J.D., Pathways and regulation of homocysteine metabolism in mammals (2000) Semin Thromb Hemost, 26 (3), pp. 219-225
- Rozen, R., Genetic modulation of homocysteinemia (2000) Semin Thromb Hemost, 26 (3), pp. 255-261
- Engbersen, A.M.T., Franken, D.G., Boers, G.H.J., Stevens, E.M., Trijbels, F.J., Blom, H.J., Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia (1995) Am J Hum Genet, 56 (1), pp. 142-150
- Schneede, J., Refsum, H., Ueland, P.M., Biological and environmental determinants of plasma homocysteine (2000) Semin Thromb Hemost, 26 (23), pp. 263-279
- Ueland, P.M., Refsum, H., Stabler, S., Malinow, M.R., Andersson, A., Allen, R.H., Total homocysteine in plasma or serum: Methods and clinical applications (1993) Clin Chem, 39, pp. 1764-1779
- Undas, A., Brozek, J., Szczeklik, A., Homocysteine and thrombosis: From basic science to clinical evidence (2005) Thromb Hemost, 94, pp. 907-915
- Selhub J, Jacques PF, Rosemberg IH, Rogers G, Bowman BA, Gunte EW, et al. Serum total homocysteine concentrations in the Third National Health and Nutrition Examination Survey (1991-1994): Population reference ranges and contribution of vitamin status to high serum concentration. Ann Intern Med 1999; 131: 331-9[ STANDARDIZEDENDPARAG]; Quintana, I., Freeman, D., Galarza, C., Murúa, A., Spence, J., Kordich, L., Validation of an enzyme immunoassay for the determination of total homocysteine in plasma (2000) Blood Coagul Fibrinolysis, 11, pp. 235-238
- Frosst, P., Blom, H., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase (1995) Nat Genet, 10, pp. 111-113
- Den Heijer, M., Lewington, S., Clarke, R., Homocysteine, MTHFR and risk of venous thrombosis: A meta-analysis of published epidemiological studies (2005) J Thromb Haemost, 3, pp. 292-299
- Genoud, V., Castañon, M., Annichino-Bizzacchi, J., Korin, J., Kordich, L., Prevalence of three prothrombotic polymorphisms: Factor V G1691A, Factor II G20210A and Methylenetetrahydrofolate reductase (MTHFR) C677T in Argentina (2000) Thromb Res, 100, pp. 127-131
- Klee, G., Cobalamin and folate evaluation: Measurement of methylmalonic acid and homocysteine vs. vitamin B12 and folate (2000) Clin Chem, 46 (8), pp. 1277-1283
- Janson, J.J., Galarza, C.R., Murúa, A., Quintana, I.L., Przygoda, P.A., Waisman, G., Prevalence of hyperhomocysteinemia in elderly population (2002) Am J Hypertens, 15, pp. 394-397
- Refsum, H., Smith, A.D., Ueland, P.M., Nexo, E., Clarke, R., McPartlin, J., Facts and recommendations about total homocysteine determinations: An expert opinion (2004) Clin Chem, 50, pp. 3-32
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 [ ]
