2005, Número 1
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Rev Invest Clin 2005; 57 (1)
El gen receptor a dopamina D4 y su asociación con los trastornos mentales
Aguirre-Samudio AJ, Nicolini H
Idioma: Español
Referencias bibliográficas: 59
Paginas: 65-75
Archivo PDF: 277.52 Kb.
RESUMEN
El gen receptor a dopamina D4 (DRD4) ha sido analizado por su estructura, su polimorfismo genético, su constitución proteínica, su distribución neuroanatómica y su respuesta farmacológica. La secuencia del gen DRD4 presenta varios polimorfismos, como del tipo número variable de repetidos en tándem (VNTR) en el exón 3, el VNTR de 12 pares de bases del exón 1 y el polimorfismo único de nucleótidos (SNP) de la región del promotor. El gen DRD4 codifica una proteína transmembranal de 7 dominios, que se distribuye en corteza frontal, en estriado, en hipotálamo y en el hipocampo. Esta revisión discute la importancia biológica del gen DRD4 y sus perspectivas ante nuevas áreas de investigación con énfasis en recientes estudios de asociación en diferentes enfermedades mentales y en comportamientos. El DRD4 es uno de los genes candidatos cuya variación polimórfica ha sido relacionada con algunos trastornos psiquiátricos como esquizofrenia, trastorno de déficit de atención e hiperactividad, obsesivo compulsivo con tics y trastorno por consumo de sustancias, así como con la característica de personalidad de búsqueda de la novedad. El gen DRD4 es un marcador genético y un modelo útil para estudios de asociación, epigenéticos y farmacogenómicos que buscan identificar el origen de trastornos psiquiátricos y comportamientos.
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