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Predisposición genética a la enfermedad iatrogénica de Creutzfeldt-Jakob
J Collinge1, M S Palmer, A J Dryden
1Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London, UK.
Lancet (London, England)
|June 15, 1991
Resumen
La enfermedad de Creutzfeldt-Jakob (ECJ) puede transmitirse a través de la hormona del crecimiento humano. La susceptibilidad genética, específicamente el genotipo homocigótico de la valina 129, aumenta el riesgo de infección por priones y de ECJ esporádica.
Área de la Ciencia:
- La neurociencia es la neurociencia.
- Enfermedades infecciosas Enfermedades infecciosas.
- Genética La genética.
Sus antecedentes:
- La enfermedad de Creutzfeldt-Jakob (ECJ), una encefalopatía espongiforme fatal, se ha relacionado con procedimientos médicos que involucran hormonas pituitarias de origen humano.
- La transmisión se produjo a través de la hormona del crecimiento y la gonadotropina derivada de las glándulas pituitarias cadavéricas.
Objetivo del estudio:
- Investigar el papel de los factores genéticos en las personas que desarrollaron ECJ después de la exposición a preparaciones de hormonas pituitarias contaminadas.
- Evaluar la prevalencia de genotipos específicos del gen de la proteína priónica (PRNP) en los casos de ECJ relacionados con la terapia hormonal.
Principales métodos:
- Análisis de las secuencias del gen de la proteína priónica (PRNP) en pacientes que recibieron hormona de crecimiento humano o gonadotropina contaminada.
- Genotipización para el polimorfismo metionina/valina en el codón 129 del gen PRNP.
Principales resultados:
- De 1908 individuos expuestos a la hormona de crecimiento contaminada en el Reino Unido, 6 desarrollaron ECJ.
- De estos casos de ECJ, y un caso relacionado con las gonadotropinas, 4 poseían el poco común genotipo homocigótico valina 129.
- Este genotipo indica una potencial susceptibilidad genética a las infecciones priónicas.
Conclusiones:
- El genotipo homocigótico de valina 129 se asocia con un mayor riesgo de desarrollar ECJ después de la exposición a hormonas pituitarias contaminadas.
- La susceptibilidad genética, particularmente el genotipo PRNP 129VV, puede desempeñar un papel importante en el desarrollo de la ECJ esporádica.
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