APBB2 genetic polymorphisms are associated with severe cognitive impairment in centenarians

APBB2 gene encodes for β-amyloid precursor protein-binding family B member 2, (APBB2, FE65-like, FE65L1), an adaptor protein binding to the cytoplasmatic domain of β-amyloid precursor protein (βAPP). Over-expression of APBB2 promotes formation of β-amyloid (Aβ), the main constituent of senile plaque...

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Bibliographic Details
Published in:Experimental gerontology 2013-04, Vol.48 (4), p.391-394
Main Authors: Golanska, Ewa, Sieruta, Monika, Gresner, Sylwia M., Pfeffer, Anna, Chodakowska-Zebrowska, Malgorzata, Sobow, Tomasz M., Klich, Izabela, Mossakowska, Malgorzata, Szybinska, Aleksandra, Barcikowska, Maria, Liberski, Pawel P.
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Aged, 80 and over
Amyloid beta-Protein Precursor - genetics
APBB2
Centenarians
Cognition Disorders - diagnosis
Cognition Disorders - genetics
Diagnostic and Statistical Manual of Mental Disorders
Female
Genetic polymorphisms
Genetic Predisposition to Disease
Humans
Intelligence Tests
Introns
Longevity
Male
Plaque, Amyloid - genetics
Polymorphism, Single Nucleotide
Psychiatric Status Rating Scales
Severe cognitive impairment
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Summary:APBB2 gene encodes for β-amyloid precursor protein-binding family B member 2, (APBB2, FE65-like, FE65L1), an adaptor protein binding to the cytoplasmatic domain of β-amyloid precursor protein (βAPP). Over-expression of APBB2 promotes formation of β-amyloid (Aβ), the main constituent of senile plaques. Polymorphisms within APBB2 gene have been proposed as candidate risk factors for Alzheimer's disease. However, their association with longevity has never been investigated. Here we present the first attempt to analyze APBB2 polymorphisms in centenarians. We used a PCR-RFLP method to analyze two intronic nucleotide substitutions: hCV1558625 (rs17443013) and rs13133980. We found no differences in genotype or allele distribution between centenarians and young controls. After stratification of centenarians upon their cognitive performance, the APBB2 rs13133980 G allele was over-represented in centenarians with severe cognitive impairment compared to individuals without this disability. Also the hCV1558625-rs13133980 AG haplotype increased relative risk for severe cognitive impairment in centenarians. Our results support the concept of APBB2 polymorphism association with cognitive performance in the oldest age.
ISSN:0531-5565
1873-6815
DOI:10.1016/j.exger.2013.01.013