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Instituto Nacional de Neurología y Neurocirugía

2008, Número 4

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Arch Neurocien 2008; 13 (4)


Genética de las enfermedades priónicas

Yescas-Gómez P, López-López M, Franco JL, Alonso-Vilatela ME

Idioma: Español
Referencias bibliográficas: 84
Paginas: 242-251
Archivo PDF: 124.39 Kb.


RESUMEN

Las enfermedades priónicas son padecimientos neurodegenerativos incurables que pueden ser esporádicos, hereditarios y transmisibles, lo cual los hace únicos. En este trabajo se realizó una revisión bibliográfica para actualizar el conocimiento de estos padecimientos, con especial énfasis en las formas hereditarias. El gen PRNP se localiza en el cromosoma 20 y contiene 2 exones y un intrón. Codifica para la proteína prión (PrPc) que contiene 253 aminoácidos y tiene un polimorfismo en el codón 129 (valina o metionina) que puede modificar el fenotipo del padecimiento. La característica de las enfermedades priónicas es el plegamiento anormal de la proteína prión que se observa en el cerebro de los individuos afectados (hipótesis de la “proteína única”). La enfermedad de Creutzfeldt-Jackob (ECJ) puede ser esporádica, iatrogénica existiendo una nueva variante. Las formas con herencia autosómica dominante incluyen a la ECJ familiar, al síndrome de Gertsmann-Sträusler-Scheinker y al insomnio familiar fatal que se deben a mutaciones germinales en el gen PRNP. Existen tres tipos de mutaciones patogénicas: mutaciones puntuales de sustitución de un aminoácido o producción de un codón de paro prematuro, e inserciones de octapéptidos repetidos. En todas las formas hereditarias existe la posibilidad de realizar un diagnóstico presintomático. A pesar de que las enfermedades priónicas se conocen desde hace varios años continúan siendo un enigma en biología por lo que es indispensable elucidar los mecanismos que las producen.


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