Enhanced Accumulation of Phosphorylated α-Synuclein and Elevated β-Amyloid 42/40 Ratio Caused by Expression of the Presenilin-1 ΔT440 Mutant Associated with Familial Lewy Body Disease and Variant Alzheimer's Disease
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Mutations in the PSEN1 gene encoding presenilin 1 (PS1) are linked to a vast majority of pedigrees with early-onset, autosomal dominant forms of familial Alzheimer's disease (FAD). Lewy body (LB) pathology is frequently found in the brains of FAD patients harboring PSEN1 mutations. We recently reported on a novel PS1 mutation with the deletion of threonine at codon 440 (ΔT440) in a familial case diagnosed as having the neocortical type of dementia with LBs (DLB) and variant AD. In this report, we investigated the possible involvement of PS1 ΔT440 mutation in aberrant α-synuclein accumulation. We established cell lines that stably express either wild-type (WT) PS1 or the FAD-linked PS1 H163R, E280A, ΔE9, and PS1 ΔT440 mutants and now demonstrate that the expression of the PS1 ΔT440 mutant led to a marked elevation in the ratio of β-amyloid (Aβ) 42/40 peptides in a conditioned medium. More importantly, we report here that the levels of phosphorylated α-synuclein increase in neuronal and non-neuronal cells expressing the PS1 ΔT440 mutant compared with cells that express WT PS1 or the PS1 H163R and E280A variants that are not associated with LB pathology. This finding is consistent with our demonstration of elevated levels of phosphorylated α-synuclein in the detergent-resistant fraction prepared from a patient's brain with PS1 ΔT440 mutation. These observations raise the intriguing suggestion that the mechanism(s) by which the PS1 ΔT440 mutant causes DLB and variant AD are by enhancing the phosphorylation of α-synuclein and the ratio of Aβ 42/40 peptides, respectively, in the brain.
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PSEN1 mutations associated with AD and DLB aggravated phosphorylation and accumulation of αSyn.
“Another study showed that PSEN1 mutations associated with AD and DLB aggravated phosphorylation and accumulation of αSyn [202].”
From α-synuclein in the pathophysiology of Alzheimer’s disease (2019) · cites this paper as [202]
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Sargent, D. (2018) · theses.fr (ABES) · doi:10.70675/2cd4ead6z0cd7z476dz8376z54bb3bd9a0ea
Genetics of Dementia with Lewy Bodies
Brás, J. (2015) · Springer eBooks · doi:10.1007/978-3-319-17223-1_4
- Authors
- Kaneko, H., Kakita, A., Kasuga, K., Nozaki, H., Ishikawa, A., Miyashita, A., Kuwano, R., Ito, G., Iwatsubo, T., Takahashi, H., Nishizawa, M., Onodera, O., Sisodia, S. S., & Ikeuchi, T.
- Affiliations
- Niigata University (JP)
- Agano City Hospital (JP)
- The University of Tokyo (JP)
- Brain Research Institute, Niigata University (JP)
- Washington University in St. Louis (US)
- University of Chicago (US)
- Corresponding author
- Ikeuchi, Takeshi
- ORCID
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2007-11-28
- Volume
- 27
- Issue
- 48
- Pages
- 13092-13097
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC6673391
- OpenAlex
- W2032076301
- Cited by
- 44
- References
- 38
- Citations by year
- 2025: 1 · 2024: 3 · 2023: 1 · 2022: 4 · 2021: 3 · 2020: 4 · 2019: 2 · 2018: 3 · 2017: 1 · 2016: 2 · 2015: 3 · 2013: 3 · 2012: 8
- FWCI
- 0.45
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- presenilin 1, alpha-synuclein phosphorylation, familial Alzheimer's disease, dementia with Lewy bodies, Lewy body pathology, neuronal cell lines
- MeSH terms
- Aged, Alzheimer Disease, Animals, Enzyme-Linked Immunosorbent Assay, Gene Expression Regulation, Glioma, Humans, Middle Aged, Mutation, Neuroblastoma, Phosphorylation, Threonine, Transfection, Amyloid beta-Peptides, Lewy Body Disease, Cell Line, Tumor, Mice, Rats, alpha-Synuclein, Receptors, Notch, Presenilin-1
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