Document Detail


Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population.
MedLine Citation:
PMID:  23102935     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Mia Kero; Anders Paetau; Tuomo Polvikoski; Maarit Tanskanen; Raimo Sulkava; Lilja Jansson; Liisa Myllykangas; Pentti J Tienari
Related Documents :
19657855 - Gender differences in health-related quality of life following total laryngectomy.
10654375 - The biological aging is our inescapable fate--but can we modify it?
10807025 - The relationship of impending death and age category to treatment intensity in the elde...
16572565 - Stability of transition to adulthood among individuals with pediatric-onset spinal cord...
9140135 - Age might influence the frequency distribution of metoprolol hydroxylation polymorphism...
21264755 - Gastroesophageal junction adenocarcinoma of young patients who underwent curative surge...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-24
Journal Detail:
Title:  Neurobiology of aging     Volume:  -     ISSN:  1558-1497     ISO Abbreviation:  Neurobiol. Aging     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8100437     Medline TA:  Neurobiol Aging     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Affiliation:
Department of Pathology, University of Helsinki and HUSLAB, Helsinki, Finland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Family Violence Assessment Practices of Pediatric ED Nurses and Physicians.
Next Document:  Screening of VCP mutations in Chinese amyotrophic lateral sclerosis patients.