Abstract

g-Secretase proteins complex cleaves the amyloid precursor protein (APP) to generate amyloid -b (Ab) peptides. Considerable evidence suggests that alterations in genes encoding these proteins exert their influence on the pathogenesis of familial Alzheimer disease (FAD). Presenilin enhancer-2 gene (PEN-2) is a necessary component of the g-Secretase complex. Recently it has been shown that PEN-2 mutations could be involved in Alzheimer's disease (AD). Methods: We performed a mutational screening of all PEN-2 coding and promoter regions in a FAD cohort derived from Southern Italy . 452 subjects (FAD: 97; Controls: 355) were recruited for this study. Results: We identified for the first time in a key region necessary for the promoter activity a novel 3 bp deletion in a subject with early-FAD. Our genetic data demonstrate that the mutant allele may influence the transcriptional activity of the PEN-2 gene. Conclusions: Although the effective role of the PEN-2 promoter deletion in AD is not entirely clear, these findings might lead to more studies on its functional and genetic role.

Autore Pugliese

• Liguori Maria

Tutti gli autori

• Andreoli V.; Trecroci F.; La Russa A.;Cittadella R.; Liguori M.; Spadafora P.; Caracciolo M.; Di Palma G.; Colica C.; Gambardella A.; Quattrone A.

Titolo volume/Rivista

Alzheimer's & dementia

Anno di pubblicazione

2011

ISSN

1552-5279

ISBN

Non Disponibile

Numero di citazioni Wos

Nessuna citazione

Ultimo Aggiornamento Citazioni

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Numero di citazioni Scopus

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Ultimo Aggiornamento Citazioni

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Settori ERC

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Codici ASJC

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