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Las variantes raras de pérdida de función en HECTD2 y AKAP11 confieren un riesgo de trastorno bipolar
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deCODE genetics logo with Amgen

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deCODE genetics

Mar 25, 2025, 08:00 ET

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-  Los científicos de deCODE Genetics, una filial de Amgen, revelan hoy en Nature Genetics asociaciones entre variantes raras de pérdida de función en dos genes y el trastorno bipolar

REIKIAVIK, Islandia, 25 de marzo de 2025 /PRNewswire/ -- El trastorno bipolar se caracteriza por cambios bruscos de humor, episodios de manía o hipomanía y episodios de depresión. Es una afección grave y altamente hereditaria que, sin tratamiento, conlleva una alta tasa de suicidio. Si bien existen varios fármacos estabilizadores del ánimo para tratar el trastorno, el tratamiento farmacológico puede tener efectos secundarios graves, por lo que se necesitan urgentemente mejores tratamientos.

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Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder
Kari Stefansson CEO of decode genetics with Thorgeir Thorgeirsson and Vinicius Tragante, authors on the paper.
Kari Stefansson CEO of decode genetics with Thorgeir Thorgeirsson and Vinicius Tragante, authors on the paper.

En los últimos 15 años se han producido avances significativos gracias a los estudios de asociación genómica, que han permitido identificar cientos de biomarcadores, es decir, variantes de la secuencia de ADN, asociados al riesgo de enfermedades psiquiátricas, como el trastorno bipolar. Estos biomarcadores representan variaciones comunes, cada una con un pequeño riesgo, pero en conjunto, están empezando a explicar una parte considerable de la varianza en los rasgos y trastornos psiquiátricos. Las variantes que se predice que causan pérdida de función génica tienden a ser poco frecuentes, pero son muy prometedoras para obtener información sobre la biología subyacente.

Para aprovechar la información contenida en las variantes raras de pérdida de función (LOF), los científicos realizaron un análisis de la carga de variantes para el trastorno bipolar mediante la agregación genética de variantes de LOF en datos de secuenciación genómica completa de Islandia y el Biobanco del Reino Unido, y utilizando datos del estudio Bipolar Exomes (BipEx, www.bipex.broadinstitute.org/results) para su replicación y posterior metaanálisis. El estudio reveló la asociación de variantes de LOF en dos genes (HECTD2 y AKAP11) con el trastorno bipolar. Ambas asociaciones con el trastorno bipolar son novedosas, pero AKAP11 se ha asociado previamente con la psicosis y la esquizofrenia.

AKAP11 codifica una proteína de anclaje a la que se unen las subunidades reguladoras de la proteína quinasa A (PKA), lo que conduce al confinamiento de la PKA a ubicaciones celulares específicas. HECTD2 codifica una ubiquitina ligasa E3 que añade múltiples grupos de ubiquitina a las proteínas, marcándolas así para su destrucción por el proteasoma. Los productos de AKAP11 y HECTD2 interactúan con GSK3β, una proteína inhibida por el litio, el estabilizador del ánimo más eficaz disponible para tratar el trastorno bipolar. Estos hallazgos apuntan a la disfunción de vías celulares específicas en el trastorno bipolar y presentan los productos génicos de AKAP11 y HECTD2, junto con GSK3β, como dianas prometedoras en la búsqueda de nuevos tratamientos para el trastorno bipolar.

Con sede en Reikiavik, Islandia, deCODE Genetics es líder mundial en el análisis y la comprensión del genoma humano. Gracias a su experiencia única y a sus recursos poblacionales, deCODE ha descubierto factores de riesgo genéticos para docenas de enfermedades comunes. El objetivo de comprender la genética de las enfermedades es utilizar esa información para crear nuevos métodos de diagnóstico, tratamiento y prevención. deCODE Genetics es una filial propiedad al 100% de Amgen.

Vídeo - https://mma.prnewswire.com/media/2648654/deCODE_genetics_1.mp4
Foto - https://mma.prnewswire.com/media/2648485/deCODE_genetics_2.jpg
Logo - https://mma.prnewswire.com/media/1535464/5231224/deCODE_genetics_Amgen_Logo.jpg

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