Increased Aβ 42(43)-plaque deposition in early-onset familial Alzheimer's disease brains with the deletion of exon 9 and the missense point mutation (H163R) in the PS-1 gene
Abstract
Cerebral amyloid deposition is a neuropathological hallmark for Alzheimer's disease (AD). Immunohistochemical analysis of two A beta species (A beta 42/43 and A beta 40) deposition was undertaken using the carboxyl end-specific antibodies to determine the molecular alteration of these species in the brains of patients whose presenilin 1 (PS-1) gene, the major causative gene for the early-onset familial AD, bears the point mutation (H163R) and the deletion of exon 9. We found a marked increase in A beta 42-plaque deposition in brains of patients with PS-1 mutations compared with that in brains of those with sporadic AD. The results of immunohistochemical analysis indicate that both mutation and deletion in the PS-1 gene promote deposition of A beta 42-plaques indicating the pathological association of PS-1 and betaAPP/A beta 42 in early-onset familial AD.
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Human PSEN1 mutation carriers have notable BBB breakdown and cerebrovascular dysfunction including cerebellar amyloid angiopathy and CAA, disrupted meningeal, subpial, and cortical arterioles, degeneration of pericytes and SMCs, cerebral perivascular amyloid deposits, and diminished FDG transport across the BBB in an early asymptomatic stage.
“Human PSEN1 mutation carriers have notable BBB breakdown and cerebrovascular dysfunction including cerebellar amyloid angiopathy and CAA (143, 183, 274, 280, 354, 389, 440, 500, 544, 573, 639, 668); disrupted meningeal, subpial, and cortical arterioles (274, 389, 440); degeneration of pericytes and SMCs (573); cerebral perivascular amyloid deposits (25, 274, 289, 354, 573, 668); and diminished FDG”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [280]
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Blood-Brain Barrier: From Physiology to Disease and Back
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- Authors
- Ishii, K., Ii, K., Hasegawa, T., Shoji, S., Doi, A., & Mori, H.
- Affiliations
- University of Tsukuba (JP)
- Tokushima University (JP)
- Tokyo Institute of Psychiatry (JP)
- Corresponding author
- Mori, H
- Venue
- Neuroscience Letters
- Publisher
- Elsevier BV
- Published
- 1997-05
- Volume
- 228
- Issue
- 1
- Pages
- 17-20
- ISSN
- 0304-3940 (ISSN-L)
- OpenAlex
- W2065639669
- Cited by
- 44
- References
- 5
- Citations by year
- 2021: 1 · 2018: 3 · 2016: 1 · 2015: 2 · 2014: 2 · 2012: 2
- FWCI
- 2.03
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuroscience Letters (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology
- 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, early-onset familial Alzheimer's disease, amyloid-beta 42, Aβ40, amyloid plaques, presenilin 1, amyloid-beta deposition, sporadic Alzheimer's disease
- MeSH terms
- Alzheimer Disease, Brain, Exons, Female, Humans, Immunohistochemistry, Male, Membrane Proteins, Middle Aged, Amyloid beta-Peptides, Gene Deletion, Point Mutation, Presenilin-1
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