Annals of the New York Academy of Sciences

Functional Characterization of Amyloid β Precursor Protein Regulatory Elements: Rationale for the Identification of Genetic Polymorphism

Corresponding Author

DEBOMOY K. LAHIRI

Department of Psychiatry, Institute of Psychiatric Research, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA

Address for correspondence: Debomoy K. Lahiri, Department of Psychiatry, Institute of Psychiatric Research, Indiana University School of Medicine, 791 Union Drive, Indianapolis, IN 46202, USA. Voice: 317-274-2706; fax: 317-274-1365. e-mail: [email protected]Search for more papers by this author

DEBOMOY K. LAHIRI,

Corresponding Author

DEBOMOY K. LAHIRI

Department of Psychiatry, Institute of Psychiatric Research, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA

First published: 08 July 2009

https://doi.org/10.1196/annals.1329.035

Citations: 24

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Abstract

Abstract: Alzheimer's disease (AD) is characterized by the formation of senile plaques of the amyloid peptide (Aβ) derived from a large Aβ precursor protein (APP). Autosomally inherited or “familial” AD has only been previously demonstrated in connection with coding sequence missense mutations. Abnormal regulation of APP gene expression has been demonstrated to play a role in AD. Genome screen and linkage analysis suggest that the APP locus may predispose to AD. The aim is to characterize genetic variability in the APP gene within its upstream regulatory region and to determine whether that variability is associated with AD and affects the expression of APP. This article describes the rationale and strategy for identifying genetic polymorphisms in the APP regulatory region, including its promoter, to associate any variability with the disease.

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Pages 282-288

Functional Characterization of Amyloid β Precursor Protein Regulatory Elements: Rationale for the Identification of Genetic Polymorphism

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Functional Characterization of Amyloid β Precursor Protein Regulatory Elements: Rationale for the Identification of Genetic Polymorphism

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