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Cited by 336Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

Alzheimer’s Disease: An Updated Overview of Its Genetics

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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 +5 more·2023·International Journal of Molecular Sciences
DOI 10.3390/ijms24043754PMC PMC9966419
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Abstract

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.

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  • PSEN1 mutations disrupt γ-secretase assembly and function, skewing APP cleavage toward longer, aggregation-prone Aβ42 fragments.

    “These mutations disrupt γ-secretase assembly and function, skewing APP cleavage toward longer, aggregation-prone Aβ42 fragments [148, 149].”

    From Toward a Unified Framework in Molecular Neurobiology of Alzheimer’s Disease: Revisiting the Pathophysiological Hypotheses (2026) · cites this paper as [148]

    Section 2, “The Four Classical Genes Associated with Alzheimer’s Disease” (page unavailable), says PSEN mutations interfere with the γ-secretase complex and alter APP processing, increasing the Aβ42/Aβ40 ratio. It does not specifically describe Aβ42 as aggregation-prone, so that part of the attributed claim is not supported by our copy. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

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Authors
Andrade-Guerrero, J., Santiago-Balmaseda, A., Jeronimo-Aguilar, P., Vargas-Rodríguez, I., Cadena-Suárez, A. R., Sánchez-Garibay, C., Pozo-Molina, G., Méndez-Catalá, C. F., Cardenas-Aguayo, M.-D.-C., Diaz-Cintra, S., Pacheco-Herrero, M., Luna-Muñoz, J., & Soto-Rojas, L. O.
Affiliations
  • Universidad Nacional Autónoma de México, Facultad de Estudios Superiores Iztacala (MX)
  • Universidad Nacional Autónoma de México (MX)
  • Facultad de Estudios Superiores Cuautitlán (MX)
  • Instituto Nacional de Neurología y Neurocirugía (MX)
  • Laboratorio de Genética y Oncología Molecular, Laboratorio 5, Edificio A4, Carrera Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Edomex, Mexico
  • Laboratory of Cellular Reprogramming, Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, CDMX 04510, Mexico
  • Departamento de Neurobiología del Desarrollo y Neurofisiología, Instituto de Neurobiología, Universidad Nacional Autónoma de México, Juriquilla 76230, Querétaro, Mexico
  • Neuroscience Research Laboratory, Faculty of Health Sciences, Pontificia Universidad Católica Madre y Maestra, Santiago de los Caballeros 51000, Dominican Republic
  • National Dementia BioBank, Ciencias Biológicas, Facultad de Estudios Superiores Cuautitlán, Universidad-Nacional Autónoma de México, Cuatitlan 53150, Edomex, Mexico
Corresponding author
Soto-Rojas, Luis O.
ORCID
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2023-02-13
Volume
24
Issue
4
Pages
3754
ISSN
1422-0067 (ISSN-L)
DOI
10.3390/ijms24043754
PMC
PMC9966419
OpenAlex
W4320731290
Cited by
336
References
36
Citations by year
2026: 60 · 2025: 140 · 2024: 104 · 2023: 32
FWCI
11.94
Type
journal article
Language
en
Open access
Licence
Locations
  • International Journal of Molecular Sciences (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
  • UNAM-PAPIIT (IA202021, IA205423, IN206322, 319433, 319578, 2018-2019-2A3-208)
  • Consejo Nacional de Ciencia y Tecnología (CONACYT) (IA202021, IA205423, IN206322, 319433, 319578, 2018-2019-2A3-208)
  • Fondo Nacional de Ciencia, Tecnología del Ministerio de Educación Superior Ciencia y Tecnología (IA202021, IA205423, IN206322, 319433, 319578, 2018-2019-2A3-208)
Topics
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Keywords
Alzheimer's disease, familial Alzheimer's disease, sporadic Alzheimer's disease, presenilin 1, presenilin 2, amyloid precursor protein, early-onset Alzheimer's disease, late-onset Alzheimer's disease, amyloid-beta, tau protein, synaptic dysfunction, mitochondrial dysfunction, neurovascular dysfunction, oxidative stress, neuroinflammation, genetic risk factors, genome-wide association study, genetic polymorphism, biomarkers, therapeutic target
MeSH terms
Alzheimer Disease, Humans, Mutation, Amyloid beta-Peptides, Amyloid beta-Protein Precursor, Neurodegenerative Diseases, Presenilin-1, Presenilin-2, Genome-Wide Association Study

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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