Novel polymorphism in the A4 region of the amyloid precursor protein gene in a patient without Alzheimer's disease
Abstract
We found a novel polymorphism in the amyloid precursor protein (APP) gene in a patient with ischemic cerebrovascular disease who had no evidence of Alzheimer's disease (AD). This polymorphism deletes a Fok I restriction enzyme site and causes the substitution of threonine for alanine at codon 673. This is adjacent to the site at which APP is thought to undergo cleavage in AD. Analysis of this polymorphism may provide insight into the basis of APP processing.
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Despite sparse parenchymal amyloid deposition, the Icelandic APP mutation leads to mild CAA and vascular pathology including microinfarcts and ischemic stroke.
“Interestingly, despite sparse parenchymal amyloid deposition, the Icelandic mutation leads to mild CAA and vascular pathology including microinfarcts (311) and ischemic stroke (468), suggesting vascular vulnerability.”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [468]
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Blood-Brain Barrier: From Physiology to Disease and Back
Sweeney, M. D., Zhao, Z., Montagne, A., Nelson, A. R., & Zlokovic, B. V. (2019) · Physiological Reviews · doi:10.1152/physrev.00050.2017 · Cited by 2,294 · see citing works
A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., Stefansson, H., Sulem, P., Gudbjartsson, D., Maloney, J., et al. (2012) · Nature · doi:10.1038/nature11283 · Cited by 1,738 · see citing works
Understanding the cause of sporadic Alzheimer’s disease
Zetterberg, H., & Mattsson, N. (2014) · Expert Review of Neurotherapeutics · doi:10.1586/14737175.2014.915740 · Cited by 73 · see citing works
- Authors
- Peacock, M. L., Warren, J. T., Roses, A. D., & Fink, J. K.
- Affiliations
- Duke University (US)
- ORCID
- Fink, John K.
- Venue
- Neurology
- Published
- 1993-06
- Volume
- 43
- Issue
- 6
- Pages
- 1254-1254
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2076562792
- Cited by
- 66
- References
- 0
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 3 · 2023: 2 · 2022: 3 · 2021: 1 · 2020: 3 · 2019: 4 · 2018: 3 · 2017: 3 · 2016: 4 · 2015: 4 · 2014: 5 · 2013: 1 · 2012: 2
- FWCI
- 1.08
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01ag010691-02)
- National Institute on Aging (R01-AG10691, AG05 128, P50AG005128, NIA AG 07922)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- amyloid precursor protein, Alzheimer's disease, genetic variation, positive selection, soft sweeps, hard sweeps, deleterious mutations, sexual selection, cancer risk, central nervous system development
- MeSH terms
- Alzheimer Disease, Cerebrovascular Disorders, Humans, Polymorphism, Genetic, Reference Values, Amyloid beta-Protein Precursor
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