Genetics of familial and sporadic Alzheimer s disease
Open accessAbstract
Alzheimer's disease (AD) is an age-related progressive neurodegenerative disorder. A majority of cases manifest as a late onset sporadic form but genetically the disease is divided into familial cases and sporadic cases. The familial form is due to mutations in three major genes (amyloid precursor protein (APP) gene, presenilin1 (PSEN1) gene and presenilin 2 (PSEN2) gene). In contrast, many genetic and environmental factors may contribute to determining the sporadic AD form. Despite many years of research and great progress in the knowledge of the molecular pathogenesis of AD, a full understanding of the etiology of the sporadic form is still not yet in reach. Genome-wide association studies (GWASs) revealed the genetic complexity of the disease and recent studies suggested that epigenetic mechanisms may play an essential role in disease development. This review provides an overview of all the milestones in AD genetic research, as well as the new and promising approach, in order to better understand the genetic profile for predicting the risk of AD.
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ADAD results from mutations in the amyloid precursor protein (APP) gene or in the presenilin genes PSEN1 and PSEN2, which are critical for APP processing.
“ADAD results from mutations in the amyloid precursor protein (APP) gene or in the presenilin genes PSEN1 and PSEN2, which are critical for APP processing. 2”
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- Authors
- Piaceri, I.
- Affiliations
- University of Florence (IT)
- Corresponding author
- Piaceri, Irene
- ORCID
- Piaceri, Irene
- Venue
- Frontiers in Bioscience
- Publisher
- IMR Press
- Published
- 2013
- Volume
- E5
- Issue
- 1
- Pages
- 167-177
- ISSN
- 1944-7892 (ISSN-L)
- 1945-0494
- 1945-0508
- DOI
- 10.2741/e605
- OpenAlex
- W2031880534
- Cited by
- 256
- References
- 67
- Citations by year
- 2026: 14 · 2025: 20 · 2024: 31 · 2023: 24 · 2022: 31 · 2021: 24 · 2020: 21 · 2019: 15 · 2018: 11 · 2017: 12 · 2016: 14 · 2015: 12 · 2014: 21 · 2013: 5
- FWCI
- 8.15
- Type
- journal article
- Language
- en
- Open access
- Licence
- other-oa
- Locations
- Frontiers in Bioscience-Elite (publishedVersion)
- PubMed (publishedVersion)
- Florence Research (University of Florence) (submittedVersion)
- INFM-OAR (INFN Catania) (submittedVersion, other-oa)
- 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, amyloid precursor protein gene, presenilin 1, presenilin 2, genetic mutations, genome-wide association study, epigenetics, disease risk prediction, neurodegeneration
- MeSH terms
- Alzheimer Disease, Apolipoproteins E, Humans, Models, Genetic, Mutation, Amyloid beta-Protein Precursor, Neurofibrillary Tangles, Genetic Predisposition to Disease, Presenilins, Genome-Wide Association Study
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