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El déficit de DAO es hereditario?

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El déficit de DAO es hereditario?

 

Hoy en día, sabemos que el déficit de la enzima Diamino Oxidasa (DAO) puede ser de origen primario o secundario, que es lo mismo que decir genético o adquirido. Por lo tanto, sí puede ser hereditario y de hecho es la principal causa del déficit de DAO.

Es importante recordar que lo que se hereda es el déficit enzimático, no la sintomatología que se presenta. En una misma familia podemos encontrar personas con déficit de DAO, pero con diferentes síntomas asociados. Por ejemplo: una madre con migraña y rinitis no alérgica, un hijo con urticaria y trastornos digestivos y un tío con fatiga crónica y trastornos digestivos.

AOC1 es el gen que codifica para la síntesis de la enzima DAO. Cuando se da una alteración genética en AOC1, la enzima DAO producida presenta una estructura anómala y, consecuentemente, menos efectiva en su principal función: la degradación de histamina proveniente de la dieta.

¿Qué prueba debo solicitar?

Para conocer si el déficit de DAO es de origen genético se debe realizar un estudio genético molecular de déficit de Diamino Oxidasa. En éste se estudian 3 variantes del gen AOC1 que, en literatura científica, han sido asociadas a niveles reducidos de actividad DAO con una menor capacidad de degradación de la histamina:

  • AOC1 c.47C>T (p.Thr16Met)
  • AOC1 c.995C>T (p.Ser332Phe)
  • AOC1 c.1990C>G (p.His664Asp)

Para todas las variantes, un resultado CC indica una producción normal de la enzima DAO, mientras que un resultado CT, CG, TT o GG indica una producción anómala de la enzima y por lo tanto, mayor riesgo de padecer déficit de DAO. Además, la variante p.T16Met se ha asociado a un mayor riesgo de hipersensibilidad a AINEs (Fármacos Antiinflamatorios No Esteroideos, como el Ácido acetilsalicílico o el Ibuprofeno. Que a su vez inhiben la función de la actividad DAO).

Hasta principios del 2019 solamente teníamos la opción de recomendar el test de actividad DAO, ya que el test genético era muy caro. Pero ahora, gracias a una tecnología más moderna, vemos muy interesante solicitar a todos nuestros pacientes la prueba del gen de la DAO. Con una muestra de mucosa bucal podemos conocer si existe algún polimorfismo genético y, por lo tanto, intuir cómo va a evolucionar la actividad DAO del paciente y qué tratamiento será el más adecuado.

Entonces, si sale positivo el test genético, ¿No me voy a curar nunca?

El hecho de padecer déficit de DAO de origen genético quiere decir que, por genética, siempre se producirá una enzima con estructura anómala y no del todo efectiva. Aun así, los niveles de actividad enzimática no sólo dependen de la genética, sino que también vienen influidos por otros factores secundarios (enfermedades inflamatorias intestinales, toma de determinados fármacos bloqueadores de la enzima DAO, consumo de bebidas alcohólicas, intervenciones quirúrgicas, periodo menstrual, etc.). Por ello, se pueden mejorar en mayor o menor medida los niveles de actividad enzimática con un estilo de vida saludable y teniendo en cuenta estos factores junto con un profesional especializado. Pero si el factor genético existe, será imprescindible seguir una dieta baja en histamina más o menos estricta toda la vida para controlar los síntomas.

 

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