Mutaciones en los genes PSEN1 y PSEN2 como marcadores moleculares en la Enfermedad de Alzheimer. Revisión Sistemática.
DOI:
https://doi.org/10.56048/MQR20225.9.3.2025.e946Palabras clave:
Enfermedad de Alzheimer; Presenilina-1; Presenilina-2; Pronóstico, Genes; DemenciaResumen
Introducción: La enfermedad de Alzheimer se considera una de las patologías neurodegenerativas de mayor impacto en la salud pública, con una prevalencia y tasa de mortalidad en incremento. En su forma de inicio temprano, se ha vinculado estrechamente con mutaciones genéticas que alteran el procesamiento de la APP y por ende acumulación de placas Aβ, siendo los genes PSEN1 y PSEN2 los más implicados.
Objetivo: Analizar la evidencia disponible sobre mutaciones en los genes PSEN1 y PSEN2 como marcadores moleculares en la enfermedad de Alzheimer. Metodología: Se realizó una revisión sistemática de la literatura, incluyendo estudios publicados entre 2019 y 2024, identificados a través de las bases de datos Scopus, PubMed y Taylor & Francis. La selección de estudios siguió los lineamientos PRISMA, y la calidad metodológica fue evaluada mediante la escala Newcastle-Ottawa (NOS). Resultados: Los estudios incluidos reportaron mutaciones frecuentes en PSEN1 (E280A, M146I, T274K) y en menor medida en PSEN2 (M239T), asociadas con una mayor proporción Aβ42/Aβ40 y un incremento en la acumulación de placas amiloides en tejido cerebral.
Conclusiones: Las mutaciones en PSEN1 y PSEN2 se pueden considerar potenciales marcadores moleculares útiles para el diagnóstico temprano y la estratificación del riesgo en pacientes con sospecha de Alzheimer de origen genético.
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