Defectos del tubo neural y gen cistationina β-sintasa

Resumen

Objetivo

Identificar alteraciones en genes relacionados con el metabolismo del folato como el gen cistationina β-sintasa, con el fin de estudiar su posible implicacion en la aparicion de defectos del tubo neural.

Material y métodos

En 27 pacientes con defectos del tubo neural, 28 madres de pacientes, 23 hermanos de pacientes sin defectos del tubo neural y 159 controles sanos, se han estudiado los polimorfismos T833C y 844ins68 dentro del gen cistationina β-sintasa y su relacion con la homocisteina.

Resultados

La prevalencia de T833C y 844ins68 entre los grupos estudiados es la misma (p = 0,861). Tampoco se han podido establecer diferencias significativas en las concentraciones de homocisteina (p = 0,429), folato (p = 0,886), vitamina B12 (p = 0,934) y folato intraeritrocitario (p = 0,618) entre individuos homocigotos o heterocigotos para el polimorfismo T833C y 844ins68 al compararlos con individuos con genotipo normal.

Conclusiones

No existe una evidencia directa entre T833C y 844ins68 del gen cistationina β- sintasa y el riesgo de defectos del tubo neural, aunque es necesaria la realizacion de nuevos estudios confirmativos.

Summary

Objective

To identify alterations in genes related with folate metabolism such as the cystathionine β-synthase (CBS) gene in order to study their possible involvement in the development of neural tube defects (NTD).

Subjects and methods

The study group consisted of 27 NTD patients, 28 mothers of children with NTD, 23 siblings of patients without NTD and 159 healthy controls. The effect of one silent polymorphism (T833C) and 68-bp insertion (844ins68) of the CBS gene on plasma homocysteine (tHcy) levels was evaluated.

Results

No difference was found between the groups in the prevalence of T833C and 844ins68 (p = 0.861). No significant differences were found in concentrations of tHcy (p = 0.429), folate (p = 0.886), vitamin B12 (p = 0.934) or intracellular folate (p = 0.618) between individuals who where heterozygous or homozygous for the T833C polymorphism and individuals carrying the 68-bp insertion compared with individuals with the wild type genotype.

Conclusions

The results of this study provide no direct evidence of a link between T833C and 844ins68 of the CBS gene and the folate-related risk of NTD, although further studies should be performed to confirm this result.