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Desarrollan test genético que mejora diagnóstico precoz de osteodisplasias

La empresa española Sistemas Genómicos ha desarrollado Osteogeneprofile, un panel para el análisis de los más de 200 genes susceptibles de implicación en osteodisplasias, tanto sindrómicas como no sindrómicas (ya sean de tipo autosómico dominante, autosómico recesivo o ligado al cromosoma X). Según la compañía, el método convencional, basado en la estrategia de secuenciación de Sanger para el estudio de enfermedades heterogéneas, resulta especialmente lento y costoso, "porque el análisis se hace gen a gen y el tiempo promedio hasta establecer el diagnóstico es excesivamente largo".

Tal y como destaca la Dra. Sonia Santillán, directora de la Unidad de Genética Médica de Sistemas Genómicos, "el nuevo test genético Osteogeneprofile ofrece el diagnóstico genético mediante secuenciación masiva de los genes asociados con cada una de las enfermedades, la validación mediante secuenciación Sanger de las mutaciones patogénicas o de significado incierto encontradas en el análisis y la interpretación clinico-biológica de las variantes asociadas con la enfermedad y encontradas en el estudio mediante la emisión de un informe". El informe, detalla esta especialista, incluye, además, recomendaciones desde un punto de vista genético que pueden ayudar al facultativo y contribuir al manejo clínico del paciente y su familia.

Por su parte, la Dra. María del Pilar Gutiérrez, endocrinóloga del Hospital de Getafe, señala que "para estos pacientes y sus familias el estudio genético es esencial, y permite emitir un consejo genético más orientado". Gracias al Osteogeneprofile, añade, "es posible realizar en los pacientes un estudio genético preimplantacional o en los primeros momentos de la gestación, confirmar o descartar esta enfermedad". Por otra parte, afirma esta experta, "a los padres con un hijo afectado, además del consejo genético, este análisis les permite plantearse tener o no otro hijo".

Poniendo como ejemplo la osteogénesis imperfecta, la Dra. Gutiérrez indica que "dado que un 10 % de las OI son de herencia recesiva, cuantos más genes implicados en este tipo de herencia conozcamos mejor consejo genético daremos a estos pacientes, puesto que el mecanismo de producción de la enfermedad nos puede ayudar incluso a plantear un tratamiento médico distinto (como ocurre con la OI tipo VI)".

Para la Dra. Pilar Trénor, presidenta de la Asociacion Valenciana de Reumatología y jefa del Servicio de Reumatología del Hospital de La Ribera (Alzira), "el diagnóstico genético precoz en estos casos permite conocer la causa genética, lo que ayuda a asimilar emocionalmente el diagnóstico así como a no realizar pruebas innecesarias". Pero, además, tiene otras implicaciones positivas: "desde el punto de vista de la prevención (para futuras gestaciones), el pronóstico (para conocer el curso de la enfermedad) y el tratamiento (mejorar las decisiones terapéuticas)".

Enfermedades raras e incapacitantes

Las OD se caracterizan por anomalías en la transformación del tejido óseo primitivo en hueso maduro, debido al fracaso en alguno de los sistemas celulares del hueso, y están generalmente asociadas a malformaciones de músculos, de ligamentos o de tendones. Pueden presentarse en el momento del nacimiento o durante la infancia y la adolescencia.

La clasificación etiológica se basa en la distinción entre las de causa conocida (total o parcial) y los de causa desconocida. Dentro de las OD de patogenia desconocida se encuentran las osteoconcondrodisplasias (que afectan a la estructura de hueso o cartílago) y las disostosis (en las que existe malformación de hueso); entre aquellos trastornos de patogenia conocida, se identifican alteraciones cromosómicas, metabólicas y afectaciones de los huesos secundarias a alteraciones graves de otros sistemas.

"Se debe sospechar la presencia de una alteración intrínseca del desarrollo esquelético cuando exista alguna de estas alteraciones: disminución del crecimiento, historia familiar positiva, alteraciones esqueléticas, presencia de síntomas dismórficos, evolución atípica de una enfermedad ortopédica,...", informa la Dra. Trénor.

'Huesos de cristal'

Entre las enfermedades que pueden ser identificadas con este nuevo test, se incluyen algunas de especial relevancia, como el Síndrome de Ehlers-Danlos (ED), un trastorno de tejido conectivo caracterizado por hiperextensibilidad y fragilidad de la piel, retraso en la cicatrización e hiperlaxitud articular generalizada (la forma más frecuente es la autosómica dominante) o el denominado Cutis Laxa, que se caracteriza por la pérdida o fragmentación de la red de fibra elástica y comprende redundancia cutánea generalizada, enfisema pulmonar y dilatación de la raíz aórtica.

La más conocida, no obstante, es la osteogénesis imperfecta (OI), que comprende un grupo de trastornos hereditarios caracterizados por fragilidad ósea y mayor susceptibilidad a las fracturas. La prevalencia es de 1/10 000 - 20000. Alrededor del 90 % de las personas con OI son heterocigotos para variantes causales en los genes COL1A1 y COL1A2. La mayoría de los restantes individuos afectados siguen un modelo autosómico recesivo.

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