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Desarrollo temprano y genes inestables en la esquizofrenia: resultados preliminares

Published online by Cambridge University Press:  12 May 2020

Agnes Ayton ,
Alex G. Morris ,
Philip J. Tyson ,
David Hunt ,
Ann M. Mortimer  and
David Cottrell
Agnes Ayton
Affiliation:
Departamento de Psiquiatría, Universidad de Hull, East Riding Campus, Conistan House, Willerby, East Yorkshire HU106NS, Reino Unido
Alex G. Morris
Affiliation:
Instituto de Oftalmología, UCL43 Bath Street, Londres, EC1V9EL, Reino Unido
Philip J. Tyson
Affiliation:
Departamento de Psiquiatría, Universidad de Hull, East Riding Campus, Conistan House, Willerby, East Yorkshire HU106NS, Reino Unido
David Hunt
Affiliation:
Instituto de Oftalmología, UCL43 Bath Street, Londres, EC1V9EL, Reino Unido
Ann M. Mortimer
Affiliation:
Departamento de Psiquiatría, Universidad de Hull, East Riding Campus, Conistan House, Willerby, East Yorkshire HU106NS, Reino Unido
David Cottrell
Affiliation:
Unidad Académica de Salud Mental del Niño y del Adolescente, 12 Clarendon Road, Leeds LS29NN, Reino Unido
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Resumen

Antecedentes.

Las repeticiones de trinucleótidos se han asociado con la esquizofrenia, pero los datos, basados en información clínica transversal, son equívocos.

Propósitos.

Examinar la relación entre el tamaño de la repetición de CAG/CTG genómico y el desarrollo premórbido en la esquizofrenia.

Método.

Se evaluó por entrevistas con los padres el desarrollo temprano y el funcionamiento premórbido de 22 pacientes con diagnóstico de esquizofrenia del DSM IV. Se utilizó la técnica de detección de la expansión de repeticiones (DER) para medir el tamaño de la repetición de CAG/CTG genómico, y la RCP para el tamaño de la repetición de CAG en los loci ERDA-1 y CTG 18.1.

Resultados.

Hubo una asociación inversa entre el tamaño de CAG/CTG y las complicaciones perinatales. Los pacientes con retraso evolutivo del habla y motor tenían repeticiones mayores. Los resultados no se debían a la expansión en los genes ERDA-1 y CTG 18.1.

Conclusiones.

La expansión de la repetición de CAG/CTG se asocia con retraso evolutivo del habla y motor en la esquizofrenia. Proponemos que el modelo evolutivo puede ser útil para la investigación en la genética de la esquizofrenia.

Keywords

esquizofreniagenética-desarrollo tempranorepeticiones de trinucleótidos
Type
Artículo original
Information
European Psychiatry (Ed. Española) , Volume 10 , Issue 3 , April 2003 , pp. 192 - 198
Copyright
Copyright © European Psychiatric Association 2003

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