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


ABSTRACT: 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.

SUBMITTER: Jones EL 

PROVIDER: S-EPMC3010675 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature

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

Jones Emma L EL   Ballard Clive G CG   Prasher Vee P VP   Arno Matthew M   Tyrer Stephen S   Moore Brian B   Hanney Maria Luisa ML  

International journal of Alzheimer's disease 20101220


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 copie  ...[more]

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