| Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population. | |
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MedLine Citation:
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PMID: 23102935 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Pathogenic mutations of the APP gene, leading to early-onset Alzheimer's disease (AD) have been known for more than 20 years. Recently, it was discovered that APP mutations might also be protective. A rare variant A673T reportedly protects against AD and age-related cognitive impairment and might functionally inhibit proteolytic cleavage at the β-secretase site of APP. We sequenced APP exon 16 in a population-based sample of 515 Finnish subjects aged 85 or older. Neuropathologic data were available in 274. We found the A673T variant in 1 subject (0.2%), who lived until age 104.8 years (second highest age-at-death in the cohort). Neuropathologic analysis showed little beta-amyloid pathology (Consortium to Establish a Registry for Alzheimer's Disease score 0). Some vascular amyloid was detected in meningeal arteries suggesting that vascular β-amyloid accumulation might be less inhibited than the parenchymal. She was demented at the age of 104, most likely because of hippocampal sclerosis. The low amount of parenchymal β-amyloid pathology at the age of 104.8 years supports the concept that the A673T variant protects the brain against β-amyloid pathology and AD. |
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Authors:
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Mia Kero; Anders Paetau; Tuomo Polvikoski; Maarit Tanskanen; Raimo Sulkava; Lilja Jansson; Liisa Myllykangas; Pentti J Tienari |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-10-24 |
Journal Detail:
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Title: Neurobiology of aging Volume: - ISSN: 1558-1497 ISO Abbreviation: Neurobiol. Aging Publication Date: 2012 Oct |
Date Detail:
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Created Date: 2012-10-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8100437 Medline TA: Neurobiol Aging Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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