Amyloid Angiopathy and Variability in Amyloid β Deposition Is Determined by Mutation Position in Presenilin-1-Linked Alzheimer’s Disease

Mann, David M.A.; Pickering-Brown, Stuart M.; Takeuchi, Ayano; Iwatsubo, Takeshi

doi:10.1016/s0002-9440(10)64688-3

Cited by 182Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchIntracerebral and Subarachnoid Hemorrhage Research

Amyloid Angiopathy and Variability in Amyloid β Deposition Is Determined by Mutation Position in Presenilin-1-Linked Alzheimer’s Disease

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Mann, David M.A., Pickering-Brown, Stuart M., Takeuchi, Ayano, Iwatsubo, Takeshi·2001·The American Journal of Pathology

DOI 10.1016/s0002-9440(10)64688-3PMC PMC1891993

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Abstract

The presenilins (PSs) are components of large molecular complexes that contain beta-catenin and function as gamma-secretase. We report here a striking correlation between amyloid angiopathy and the location of mutation in PS-1 linked Alzheimer's disease. The amount of amyloid beta protein, Abeta(42(43)), but not Abeta(40,) deposited in the frontal cortex of the brain is increased in 54 cases of early-onset familial Alzheimer's disease, encompassing 25 mutations in the presenilin-1 (PS-1) gene, compared to sporadic Alzheimer's disease. The amount of Abeta(40) in PS-1 Alzheimer's disease varied according to the copy number of epsilon4 alleles of the Apolipoprotein E gene. Although the amounts of Abeta(40) and Abeta(42(43)) deposited did not correlate with the genetic location of the mutation in a strict linear sense, the histological profile did so vary. Cases with mutations between codon 1 and 200 showed, in frontal cortex, many diffuse plaques, few cored plaques, and mild or moderate amyloid angiopathy. Cases with mutations occurring after codon 200 also showed many diffuse plaques, but the number and size of cored plaques were increased (even when epsilon4 allele was not present) and these were often clustered around blood vessels severely affected by amyloid angiopathy. Similarly, diverging histological profiles, mainly according to the degree of amyloid angiopathy, were seen in the cerebellum. Mutations in the PS-1 gene may therefore alter the topology of the PS-1 protein so as to favor Abeta formation and deposition, generally, but also to facilitate amyloid angiopathy particularly in cases in which the mutation lies beyond codon 200. Finally we report that the amount of Abeta(42(43)) deposited in the brain correlated with the amount of this produced in culture by cells bearing the equivalent mutations.

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Several PSEN1 mutations are associated with AD and correlate with pathological CAA severity.
“Several PSEN1 mutations are associated with AD and correlates with pathological CAA severity [610].”
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Authors: Mann, D. M. A., Pickering-Brown, S. M., Takeuchi, A., & Iwatsubo, T.
Affiliations: University of Manchester (GB)
The University of Tokyo (JP)
Corresponding author: Mann, David M.A.
ORCID: Mann, David M.A.
Pickering-Brown, Stuart M.
Iwatsubo, Takeshi
Venue: The American Journal of Pathology
Publisher: Elsevier BV
Published: 2001-06
Volume: 158
Issue: 6
Pages: 2165-2175
ISSN: 0002-9440 (ISSN-L)
DOI: 10.1016/s0002-9440(10)64688-3
PMC: PMC1891993
OpenAlex: W1965252410
Cited by: 182
References: 66
Citations by year: 2025: 2 · 2024: 13 · 2023: 7 · 2022: 11 · 2021: 10 · 2020: 5 · 2019: 6 · 2018: 7 · 2017: 4 · 2016: 7 · 2015: 12 · 2014: 2 · 2013: 8 · 2012: 6
FWCI: 5.79
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: American Journal Of Pathology (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Research Explorer (The University of Manchester) (submittedVersion)
Topics: Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
Health Sciences › Medicine › Neurology › Intracerebral and Subarachnoid Hemorrhage Research
Keywords: amyloid angiopathy, presenilin 1, Alzheimer's disease, amyloid-beta deposition, amyloid-beta 42, Aβ40, familial Alzheimer's disease, mutation position, APOE ε4, cerebral amyloid angiopathy, diffuse plaques, frontal cortex, cerebellum, gamma-secretase, protein topology
MeSH terms: Adult, Alzheimer Disease, Animals, Apolipoproteins E, Cerebellum, Female, Frontal Lobe, Genotype, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Peptide Fragments, Genetic Variation, Amyloid beta-Peptides, Cerebral Amyloid Angiopathy, COS Cells, Presenilin-1

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Amyloid Angiopathy and Variability in Amyloid β Deposition Is Determined by Mutation Position in Presenilin-1-Linked Alzheimer’s Disease

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