Cargando…
Alzheimer’s Disease: An Updated Overview of Its Genetics
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 genet...
Autores principales: | , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966419/ https://www.ncbi.nlm.nih.gov/pubmed/36835161 http://dx.doi.org/10.3390/ijms24043754 |
_version_ | 1784897012249919488 |
---|---|
author | Andrade-Guerrero, Jesús Santiago-Balmaseda, Alberto Jeronimo-Aguilar, Paola 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. |
author_facet | Andrade-Guerrero, Jesús Santiago-Balmaseda, Alberto Jeronimo-Aguilar, Paola 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. |
author_sort | Andrade-Guerrero, Jesús |
collection | PubMed |
description | 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 (Aβ) 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. |
format | Online Article Text |
id | pubmed-9966419 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-99664192023-02-26 Alzheimer’s Disease: An Updated Overview of Its Genetics Andrade-Guerrero, Jesús Santiago-Balmaseda, Alberto Jeronimo-Aguilar, Paola 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. Int J Mol Sci Review 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 (Aβ) 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. MDPI 2023-02-13 /pmc/articles/PMC9966419/ /pubmed/36835161 http://dx.doi.org/10.3390/ijms24043754 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Andrade-Guerrero, Jesús Santiago-Balmaseda, Alberto Jeronimo-Aguilar, Paola 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. Alzheimer’s Disease: An Updated Overview of Its Genetics |
title | Alzheimer’s Disease: An Updated Overview of Its Genetics |
title_full | Alzheimer’s Disease: An Updated Overview of Its Genetics |
title_fullStr | Alzheimer’s Disease: An Updated Overview of Its Genetics |
title_full_unstemmed | Alzheimer’s Disease: An Updated Overview of Its Genetics |
title_short | Alzheimer’s Disease: An Updated Overview of Its Genetics |
title_sort | alzheimer’s disease: an updated overview of its genetics |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966419/ https://www.ncbi.nlm.nih.gov/pubmed/36835161 http://dx.doi.org/10.3390/ijms24043754 |
work_keys_str_mv | AT andradeguerrerojesus alzheimersdiseaseanupdatedoverviewofitsgenetics AT santiagobalmasedaalberto alzheimersdiseaseanupdatedoverviewofitsgenetics AT jeronimoaguilarpaola alzheimersdiseaseanupdatedoverviewofitsgenetics AT vargasrodriguezisaac alzheimersdiseaseanupdatedoverviewofitsgenetics AT cadenasuarezanaruth alzheimersdiseaseanupdatedoverviewofitsgenetics AT sanchezgaribaycarlos alzheimersdiseaseanupdatedoverviewofitsgenetics AT pozomolinaglustein alzheimersdiseaseanupdatedoverviewofitsgenetics AT mendezcatalaclaudiafabiola alzheimersdiseaseanupdatedoverviewofitsgenetics AT cardenasaguayomariadelcarmen alzheimersdiseaseanupdatedoverviewofitsgenetics AT diazcintrasofia alzheimersdiseaseanupdatedoverviewofitsgenetics AT pachecoherreromar alzheimersdiseaseanupdatedoverviewofitsgenetics AT lunamunozjose alzheimersdiseaseanupdatedoverviewofitsgenetics AT sotorojasluiso alzheimersdiseaseanupdatedoverviewofitsgenetics |