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Mouse Footpad Inoculation Model to Study Viral-Induced Neuroinflammatory Responses
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Ciencia básica y patogénesis
Luke W Bonham1,2, Alexis P Oddi2, Valerie Drews Escobar2
1Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
Resumen
Una variante genética común (IFI44L rs273259) influye en la progresión de las enfermedades neurodegenerativas. El alelo alternativo está relacionado con un declive clínico más rápido en el envejecimiento normal y en afecciones como la demencia frontotemporal y la enfermedad de Alzheimer.
Área de la Ciencia:
- Neurociencia
- Genética
- Inmunología
Sus antecedentes:
- La desregulación de la respuesta al interferón (IFN) está implicada en la neurodegeneración.
- Las variaciones genéticas en el papel de la vía del IFN en la enfermedad neurodegenerativa están poco estudiadas.
- Las infecciones virales y las vacunas pueden modificar el riesgo de enfermedad neurodegenerativa.
Objetivo del estudio:
- Investigar la asociación entre la variación genética común en el gen IFI44L estimulado por IFN y las trayectorias clínicas en enfermedades neurodegenerativas y envejecimiento normal.
- Probar la hipótesis de que la variación de IFI44L modula la progresión de la enfermedad.
Principales métodos:
- Se realizaron análisis longitudinales utilizando modelos mixtos lineales en dos cohortes independientes (UCSF Memory and Aging Center y ADNI).
- La gravedad clínica y el deterioro cognitivo se evaluaron utilizando medidas como la Escala de Calificación de Demencia Clínica Suma de Cajas (CDR-SB) y el Examen del Estado Mental Mínimo.
- El genotipo IFI44L rs273259 se determinó mediante secuenciación del genoma completo y BeadChips de GWAS de Illumina.
Principales resultados:
- El alelo G alternativo de IFI44L rs273259 mostró una asociación significativa y dependiente de la dosis con peores trayectorias clínicas en individuos clínicamente normales (CN) y con deterioro cognitivo leve (MCI) en la cohorte ADNI.
- En la cohorte MAC, el alelo alternativo se correlacionó con peores trayectorias de CDR-SB en CN, demencia frontotemporal y AD de inicio temprano.
- El genotipo IFI44L se asoció con trayectorias clínicas en subtipos de FTLD definidos neuropatológicamente (proteinopatía tau y TDP-43).
Conclusiones:
- Una variante común de IFI44L se asocia significativamente con trayectorias clínicas en el envejecimiento normal y múltiples enfermedades neurodegenerativas.
- Este hallazgo confirma un papel crucial de la señalización de interferón en los procesos de envejecimiento y neurodegeneración.
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