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Noticias médicas
Publicado el 2 de mayo de 2001
Dislipemia
Identifican un gen responsable de la hipercolesterolemia autosómica recesiva
Un estudio genético de familias sardas (de Cerdeña) y libanesas, desarrollado por investigadores de la Universidad de Texas y de varias universidades italianas, ha detectado un gen responsable de la hipercolesterolemia autosómica recesiva, que causa enfermedad cardiaca a una temprana edad.
La mayoría de la lipoproteína de baja densidad es eliminado de la sangre por el hígado en un proceso controlado por receptores celulares especializados en lipoproteínas de baja densidad.
Los pacientes con hipercolesterolemia autosómica recesiva no eliminan bien esta forma de colesterol de la sangre y son extremadamente vulnerables a los problemas cardiacos asociados con los altos niveles de colesterol.
Los autores del estudio identificaron al gen involucrado en esta condición y encontraron que éste codifica una proteína adaptadora previamente desconocida. Los adaptadores se unen a los extremos de las moléculas receptoras que penden de la membrana celular que hay dentro del citoplasma. Al unirse al extremo de receptor de colesterol, la nueva proteína posiblemente asiste con la reabsorción de las lipoproteínas por las células hepáticas.