An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome

People with Down syndrome (DS) develop Alzheimer's disease (AD) with an early age of onset. A tetranucleotide repeat, attt(5−8), in intron 7 of the amyloid precursor protein has been associated with the age of onset of AD in DS in a preliminary study. The authors examine the impact of this poly...

Descripción completa

Detalles Bibliográficos
Autores principales: Jones, Emma L., Ballard, Clive G., Prasher, Vee P., Arno, Matthew, Tyrer, Stephen, Moore, Brian, Hanney, Maria Luisa
Formato: Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3010675/
https://www.ncbi.nlm.nih.gov/pubmed/21197396
http://dx.doi.org/10.4061/2011/929102
_version_ 1782194820461101056
author Jones, Emma L.
Ballard, Clive G.
Prasher, Vee P.
Arno, Matthew
Tyrer, Stephen
Moore, Brian
Hanney, Maria Luisa
author_facet Jones, Emma L.
Ballard, Clive G.
Prasher, Vee P.
Arno, Matthew
Tyrer, Stephen
Moore, Brian
Hanney, Maria Luisa
author_sort Jones, Emma L.
collection PubMed
description People with Down syndrome (DS) develop Alzheimer's disease (AD) with an early age of onset. A tetranucleotide repeat, attt(5−8), in intron 7 of the amyloid precursor protein has been associated with the age of onset of AD in DS in a preliminary study. The authors examine the impact of this polymorphism in a larger cohort of individuals with DS. Adults with DS were genotyped for attt(5−8) and APOE. The results were analysed with respect to the age of onset of dementia. The presence of three copies of the six-repeat allele resulted in onset of dementia seven years earlier than in the presence of other genotypes. Further study is essential to elucidate the mechanism by which this polymorphism functions, with an exciting opportunity to identify novel treatment targets relevant for people with DS and AD.
format Text
id pubmed-3010675
institution National Center for Biotechnology Information
language English
publishDate 2010
publisher SAGE-Hindawi Access to Research
record_format MEDLINE/PubMed
spelling pubmed-30106752010-12-30 An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome Jones, Emma L. Ballard, Clive G. Prasher, Vee P. Arno, Matthew Tyrer, Stephen Moore, Brian Hanney, Maria Luisa Int J Alzheimers Dis Research Article People with Down syndrome (DS) develop Alzheimer's disease (AD) with an early age of onset. A tetranucleotide repeat, attt(5−8), in intron 7 of the amyloid precursor protein has been associated with the age of onset of AD in DS in a preliminary study. The authors examine the impact of this polymorphism in a larger cohort of individuals with DS. Adults with DS were genotyped for attt(5−8) and APOE. The results were analysed with respect to the age of onset of dementia. The presence of three copies of the six-repeat allele resulted in onset of dementia seven years earlier than in the presence of other genotypes. Further study is essential to elucidate the mechanism by which this polymorphism functions, with an exciting opportunity to identify novel treatment targets relevant for people with DS and AD. SAGE-Hindawi Access to Research 2010-12-20 /pmc/articles/PMC3010675/ /pubmed/21197396 http://dx.doi.org/10.4061/2011/929102 Text en Copyright © 2011 Emma L. Jones et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Jones, Emma L.
Ballard, Clive G.
Prasher, Vee P.
Arno, Matthew
Tyrer, Stephen
Moore, Brian
Hanney, Maria Luisa
An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome
title An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome
title_full An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome
title_fullStr An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome
title_full_unstemmed An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome
title_short An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome
title_sort intron 7 polymorphism in app affects the age of onset of dementia in down syndrome
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3010675/
https://www.ncbi.nlm.nih.gov/pubmed/21197396
http://dx.doi.org/10.4061/2011/929102
work_keys_str_mv AT jonesemmal anintron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT ballardcliveg anintron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT prasherveep anintron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT arnomatthew anintron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT tyrerstephen anintron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT moorebrian anintron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT hanneymarialuisa anintron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT jonesemmal intron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT ballardcliveg intron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT prasherveep intron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT arnomatthew intron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT tyrerstephen intron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT moorebrian intron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome
AT hanneymarialuisa intron7polymorphisminappaffectstheageofonsetofdementiaindownsyndrome

Ejemplares similares