Amyloid-β Protein Precursor Gene Expression in Alzheimer's Disease and Other Conditions

Article type: Research Article

Authors: Pottier, Cyril^{a; b} | Wallon, David^{a; b} | Lecrux, Anne Rovelet^{a; b} | Maltete, David^{a; c} | Bombois, Stephanie^{b; d} | Jurici, Snejana^{a; b} | Frebourg, Thierry^{a; b} | Hannequin, Didier^{a; b; c} | Campion, Dominique^{a; b; e; *}

Affiliations: [a] Inserm U614, Faculty of Medicine, Institute for Biomedical Research and Innovation, University of Rouen, Rouen, France | [b] CNR-MAJ, CMRR, Rouen University Hospital, Lille University Hospital and Paris Salpêtrière University Hospital, France | [c] CIC-CRB 0204, Rouen University Hospital, Rouen, France | [d] EA1046, Lille Nord University Hospital, Lille, France | [e] Department of research, CH Rouvray, Sotteville les Rouen, France

Correspondence: [*] Correspondence to: Dr. Dominique Campion, Inserm U614, Faculté de Médecine, 22 boulevard Gambetta, 76183 Rouen, France. Tel.: +33 235148280; Fax: +33 235148237; E-mail: dominique.campion@univ-rouen.fr.

Abstract: Several lines of evidence suggest that AβPP gene expression could influence risk for Alzheimer's disease (AD). Using a highly sensitive multiplex fluorescent RT-PCR assay, we compared peripheral blood cells expression of AβPP mRNA among sporadic AD patients (n = 133), autosomal dominant early-onset AD cases (ADEOAD, n = 21), Down syndrome patients (n = 21), AD patients with AβPP duplication (n = 9), patients with recent ischemic stroke (n = 25), and healthy controls (n = 58). Compared to healthy controls (median = 0.98), AβPP expression was not increased in sporadic AD patients (median = 1.01, p = 0.42) nor in ADEOAD patients (median = 0.96, p = 0.26). Down syndrome patients as well as patients with AβPP duplication had significantly increased levels of AβPP mRNA compared to controls (median = 1.48 and median = 1.36, p < 0.0001 and p = 0.0007, respectively). A weaker but significant increase in relative amount of AβPP transcripts in patients who suffered from recent stroke was observed (median = 1.14, p = 0.0007). Our results do not support a pathogenic role of AβPP overexpression in sporadic AD although a small subset of patients displays AβPP overexpression in the same range as Down syndrome patients.

Keywords: Alzheimer's disease, amyloid-β protein precursor, Down syndrome, early-onset, late-onset, stroke, transcript expression analysis

DOI: 10.3233/JAD-2011-111148

Journal: Journal of Alzheimer's Disease, vol. 28, no. 3, pp. 561-566, 2012