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Vol. 60. Núm. 3.
Páginas 215-221 (marzo 2004)
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Vol. 60. Núm. 3.
Páginas 215-221 (marzo 2004)
Acceso a texto completo
Influencia de factores bioquímicos y genéticos en las concentraciones de homocisteína
Influence of biochemical and genetic factors on homocysteine concentrations
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12196
J.I. Gutiérrez Revillaa,
Autor para correspondencia
joseignaciogutierrez@redfarma.org

Correspondencia: Servicio de Bioquímica Clínica. Sección de Genética. Hospital Universitario Miguel Servet. P.° Isabel La Católica, 1 y 3. 50009 Zaragoza. España.
, F. Pérez Hernándezb, M. Tamparillas Salvadora, M.aT. Calvo Martína
a Servicio de Bioquímica Clínica. Sección de Genética. Hospital Universitario Miguel Servet. Zaragoza
b Farmacéutica de Atención Primaria. Gerencia Santander-Laredo. Santander. España
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Antecedentes

En varios estudios se ha analizado la asociación entre el genotipo del gen metilentetrahidrofolato reductasa (MTHFR) y las concentraciones de homocisteína plasmática, pero muy pocos estudios se han realizado en niños.

Objetivo

Determinar la concentración plasmática de homocisteína total, ácido fólico, folato intraeritrocitario (FCR) y vitamina B12 en un grupo de niños sanos y ver su posible relación con el genotipo MTHFR.

Sujetos y métodos

Formaron parte del estudio 83 participantes (45 chicos y 38 chicas) de edad comprendida entre 1 semana y 18 años. Las muestras de plasma y sangre completa se almacenaron a –80 °C para su posterior determinación de los parámetros bioquímicos y moleculares. La determinación de homocisteína total se realizó mediante ensayo de inmunofluorescencia polarizada; mientras que la concentración sérica de ácido fólico, folato intraeritrocitario y vitamina B12 se determinó mediante inmunoanálisis electroquimioluminiscente. El análisis molecular se realizó mediante reacción en cadena de la polimerasa (PCR), y posterior digestión enzimática, del ADN obtenido de las muestras de sangre.

Resultados

Las concentraciones plasmáticas de homocisteína se correlacionaron negativamente con las de ácido fólico, vitamina B12 y FCR, pero positivamente con la edad (p < 0,005). Se ha encontrado una interacción entre la edad-genotipo MTHFR y las concentraciones de ácido fólico, vitamina B12 y FCR, pero no con las concentraciones de homocisteína.

Conclusiones

Nuestras observaciones sugieren que la concentración de homocisteína en la población pediátrica sana está más influida por factores bioquímicos como el ácido fólico, que genéticos.

Palabras clave:
Homocisteína
Metilentetrahidrofolato reductasa
Ácido fólico
Vitamina B12
Folato intraeritrocitario
Background

Several studies have examined the association between the methylenetetrahydrofolate reductase (MTHFR) genotype and plasma homocysteine concentrations in adults but few studies have been performed in children.

Objective

To determine plasma concentrations of total homocysteine, folate, vitamin B12, and red cell folate in a group of healthy children and to determine their possible relationship with the MTHFR genotype.

Subjects and methods

Eighty-three subjects (45 boys and 38 girls), aged between 1 week and 18 years, were included in the study. Plasma and whole blood samples were stored at –80 °C for biochemical and molecular analysis. Plasma total homocysteine was determined by fluorescence polarization immunoassay. Serum concentrations of folate, vitamin B12, and red cell folate were measured by electrochemiluminescence immunoassay. Genotypic analysis was performed by polymerase chain reaction amplification of genomic DNA extracted from blood leukocytes.

Results

Plasma homocysteine concentrations were negatively correlated with folate, vitamin B12, and red cell folate but were positively correlated with age (p < 0.005). There was an association between age-MTHFR genotype and folic acid, vitamin B12, and red cell folate, but not with homocysteine concentrations.

Conclusions

Our results suggest that in a healthy pediatric population, homocysteine concentrations are determined by biochemical factors, such as folic acid, more than by genetic factors.

Key words:
Homocysteine
Methylenetetrahydrofolate reductase
Folic acid
Vitamin B12
Red cell folate
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