Alzheimer’s disease: an updated overview of its genetics
Fecha
2023-02-13Autor
Guerrero, Jesús Andrade
Balmaseda, Alberto Santiago
Aguilar, Paola Jeronimo
Vargas-Rodríguez, Isaac
Cadena-Suárez, Ana Ruth
Sánchez-Garibay, Carlos
Pozo-Molina, Glustein
Méndez-Catalá, Claudia Fabiola
Cardenas-Aguayo, Maria-del-Carmen
Diaz-Cintra, Sofía
Pacheco-Herrero, Mar
Luna-Muñoz, José
Soto-Rojas, Luis O.
Metadatos
Mostrar el registro completo del ítemResumen
Alzheimer’s disease (AD) is the most common neurodegenerative disease in the world. It
is classified as familial and sporadic. The dominant familial or autosomal presentation represents
1–5% of the total number of cases. It is categorized as early onset (EOAD; <65 years of age) and
presents genetic mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), or the Amyloid precursor protein (APP). Sporadic AD represents 95% of the cases and is categorized as late-onset (LOAD), occurring in patients older than 65 years of age. Several risk factors have been identified in sporadic AD; aging is the main one. Nonetheless, multiple genes have been associated with the different neuropathological events involved in LOAD, such as the pathological processing of Amyloid beta (A ) peptide and Tau protein, as well as synaptic and mitochondrial dysfunctions, neurovascular alterations, oxidative
stress, and neuroinflammation, among others. Interestingly, using genome-wide association study
(GWAS) technology, many polymorphisms associated with LOAD have been identified. This review
aims to analyze the new genetic findings that are closely related to the pathophysiology of AD.
Likewise, it analyzes the multiple mutations identified to date through GWAS that are associated
with a high or low risk of developing this neurodegeneration. Understanding genetic variability will
allow for the identification of early biomarkers and opportune therapeutic targets for AD.
Colecciones
El ítem tiene asociados los siguientes ficheros de licencia: