A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer’s Disease
Open accessAbstract
We previously reported age of onset (AOO) modifier genes in the world's largest pedigree segregating early-onset Alzheimer's disease (AD), caused by the p.Glu280Ala (E280A) mutation in the PSEN1 gene. Here we report the results of a targeted analysis of functional exonic variants in those AOO modifier genes in sixty individuals with PSEN1 E280A AD who were whole-exome genotyped for ~250,000 variants. Standard quality control, filtering, and annotation for functional variants were applied, and common functional variants located in those previously reported as AOO modifier loci were selected. Multiloci linear mixed-effects models were used to test the association between these variants and AOO. An exonic missense mutation in the G72 (DAOA) gene (rs2391191, P = 1.94 × 10(-4), P FDR = 9.34 × 10(-3)) was found to modify AOO in PSEN1 E280A AD. Nominal associations of missense mutations in the CLUAP1 (rs9790, P = 7.63 × 10(-3), P FDR = 0.1832) and EXOC2 (rs17136239, P = 0.0325, P FDR = 0.391) genes were also found. Previous studies have linked polymorphisms in the DAOA gene with the occurrence of neuropsychiatric symptoms such as depression, apathy, aggression, delusions, hallucinations, and psychosis in AD. Our findings strongly suggest that this new conspicuous functional AOO modifier within the G72 (DAOA) gene could be pivotal for understanding the genetic basis of AD.
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Other genetic variants identified as modifiers or protective against familial Alzheimer's disease (FAD) delay Alzheimer's disease (AD) onset and are related to astrocyte genes, ubiquitin-proteasome function, and p-tau degradation.
“Other genetic variants that have also been identified as modifiers or protective against FAD, delay AD‐onset and are related to astrocyte genes, ubiquitin‐proteasome function, and p‐tau degradation [61, 126, 129]”
From Gliovascular alterations in sporadic and familial Alzheimer's disease: <scp><i>APOE3</i></scp> Christchurch homozygote glioprotection (2023) · cites this paper as [126]
The Results (section 3.2; page unavailable) identify a DAOA variant associated with age of onset in people with PSEN1 E280A familial Alzheimer’s disease, and the Discussion (section 4; page unavailable) links EXOC2 to astrocyte research. The paper does not establish that these variants delay onset or protect against disease, and the passages found do not connect them to ubiquitin-proteasome function or p-tau degradation. (LLM, conf=0.86)
Experimental — accuracy not yet measuredNeuroinflammation induces claudin-5 redistribution favoring hypervascularization and blood-brain barrier (BBB) leakage.
“neuroinflammation induces its redistribution favoring hypervascularization and BBB leakage [126]”
From Gliovascular alterations in sporadic and familial Alzheimer's disease: <scp><i>APOE3</i></scp> Christchurch homozygote glioprotection (2023) · cites this paper as [126]
The Discussion (page unavailable) mentions astrocytes’ contribution to neuroinflammation in Alzheimer’s disease, but does not address claudin-5 redistribution, hypervascularization, or BBB leakage. Searches for those terms and for vascular permeability and tight junctions found no passage supporting the claimed mechanism. (LLM, conf=0.75)
Experimental — accuracy not yet measuredTargeted sequencing analyses have provided insight into genetic modifiers of the age at first symptom onset in EOAD families.
“Targeted sequencing analyses have also provided insight into genetic modifiers of the age at first symptom onset in EOAD families [164, 165].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [164]
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Structure models of G72, the product of a susceptibility gene to schizophrenia
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Genetics of Alzheimer's disease in adults with Down syndrome
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- Authors
- Vélez, J. I., Rivera, D., Mastronardi, C. A., Patel, H. R., Tobón, C., Villegas, A., Cai, Y., Easteal, S., Lopera, F., & Arcos-Burgos, M.
- Affiliations
- The Arcos-Burgos Group, Department of Genome Sciences, John Curtin School of Medical Research, The Australian National University, Canberra, ACT 2600, Australia
- Universidad de Antioquia (CO)
- Australian National University (AU)
- Corresponding author
- Lopera, Francisco
- ORCID
- Venue
- Neural Plasticity
- Publisher
- Wiley
- Published
- 2016
- Volume
- 2016
- Pages
- 1-7
- ISSN
- 1687-5443 (ISSN-L)
- 2090-5904
- PMC
- PMC4753688
- OpenAlex
- W2213828421
- Cited by
- 25
- References
- 59
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 5 · 2020: 3 · 2019: 4 · 2018: 5 · 2017: 1 · 2016: 2
- FWCI
- 3.22
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Neural Plasticity (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Institutional Repository University of Antioquia (University of Antioquia) (publishedVersion, cc-by)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- ANU Open Research (Australian National University) (submittedVersion)
- Greater South Information System
- Funders
- University of Antioquia (1115-408-20543)
- Australian National University (1115-408-20543)
- 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 › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- early-onset Alzheimer's disease, PSEN1 E280A mutation, DAOA, G72, missense mutations, genetic susceptibility, neuropsychiatric symptoms
- MeSH terms
- Alzheimer Disease, Carrier Proteins, Exons, Female, Humans, Male, Age of Onset, Genetic Predisposition to Disease, Mutation, Missense, Intracellular Signaling Peptides and Proteins, Presenilin-1
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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.
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