Riba L

Idioma: Español
Referencias bibliográficas: 59
Paginas: 24-31
Archivo PDF: 196.75 Kb.

RESUMEN

A raíz del desarrollo del Proyecto del Genoma Humano, los descubrimientos resultantes sobre la caracterización molecular y fisiológica del funcionamiento celular han revolucionado los conceptos de la etiología y tratamiento de la enfermedad humana, no sólo para padecimientos mendelianos sino para la posibilidad de evaluar la susceptibilidad a las formas complejas (poligénicas y multifactoriales) más comunes de estas enfermedades. Las complicaciones de la aterosclerosis son la causa principal de mortalidad en todos los grupos étnicos y se encuentran entre las principales causas de incapacidad prematura y definitiva. En la presente revisión se discutirá el componente genético de la aterosclerosis, y se cubrirán de manera concisa las formas monogénicas de la hipercolesterolemia familiar en sus formas autosómicas dominantes y recesivas, así como los genes implicados. La prevalencia de mutaciones o polimorfismos en distintos genes responsables de condiciones monogénicas o de genes de susceptibilidad, así como las posibles combinaciones de estos últimos, pueden ser muy variables en diferentes grupos étnicos. Debido a esto, la caracterización genética y molecular de nuevas formas de dislipidemias monogénicas por mapeo y clonación posicional se ha perfilado como una estrategia importante para el mejor entendimiento de vías metabólicas conocidas así como la identificación de nuevas vías en el metabolismo de lípidos. A su vez, este conocimiento tendrá un impacto en el desarrollo de nuevos blancos terapéuticos y en la aplicación de terapias individualizadas para el tratamiento de la hipercolesterolemia y otras dislipidemias para la prevención de la enfermedad coronaria.

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