Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase

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...

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Autores principales:	Castañon, María Mercedes, Lauricella, Ana María, Quintana, Irene Luisa
Publicado:	2006
Materias:	Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v40_n3_p_Castanon http://hdl.handle.net/20.500.12110/paper_03252957_v40_n3_p_Castanon
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_03252957_v40_n3_p_Castanon
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spelling	paper:paper_03252957_v40_n3_p_Castanon2023-06-08T15:32:20Z Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase Castañon, María Mercedes Lauricella, Ana María Quintana, Irene Luisa Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12 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. Fil:Castañon, M.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Lauricella, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Quintana, I.L. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2006 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v40_n3_p_Castanon http://hdl.handle.net/20.500.12110/paper_03252957_v40_n3_p_Castanon
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12
spellingShingle	Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12 Castañon, María Mercedes Lauricella, Ana María Quintana, Irene Luisa Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase
topic_facet	Folic acid Hyperhomocysteinemia Methylenetetrahydrofolate reductase Vitamin B12
description	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.
author	Castañon, María Mercedes Lauricella, Ana María Quintana, Irene Luisa
author_facet	Castañon, María Mercedes Lauricella, Ana María Quintana, Irene Luisa
author_sort	Castañon, María Mercedes
title	Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase
title_short	Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase
title_full	Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase
title_fullStr	Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase
title_full_unstemmed	Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase
title_sort	importance of the determination of homocysteine and c667t polimorphism of methylenetetrahydrofolate reductase
publishDate	2006
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_03252957_v40_n3_p_Castanon http://hdl.handle.net/20.500.12110/paper_03252957_v40_n3_p_Castanon
work_keys_str_mv	AT castanonmariamercedes importanceofthedeterminationofhomocysteineandc667tpolimorphismofmethylenetetrahydrofolatereductase AT lauricellaanamaria importanceofthedeterminationofhomocysteineandc667tpolimorphismofmethylenetetrahydrofolatereductase AT quintanaireneluisa importanceofthedeterminationofhomocysteineandc667tpolimorphismofmethylenetetrahydrofolatereductase
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Importance of the determination of homocysteine and C667T polimorphism of methylenetetrahydrofolate reductase

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