Home |  English version |  Mappa |  Commenti |  Sondaggio |  Staff |  Contattaci Cerca nel sito  
Istituto sull'inquinamento atmosferico

Torna all'elenco Contributi in rivista anno 2011

Contributo in rivista

Tipo: Articolo in rivista

Titolo: Presenilin enhancer-2 gene: Identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease

Anno di pubblicazione: 2011

Formato: Elettronico

Autori: Virginia Andreoli, Francesca Trecroci, Antonella La Russa, Rita Cittadella, Maria Liguori, Patrizia Spadafora, Manuela Caracciolo, Gemma Di Palma, Carmela Colica, Antonio Gambardella, Aldo Quattrone.

Affiliazioni autori: Institute of Neurological Sciences-National Research Council, Pianolago di Mangone, Cosenza, Italy. Institute of Neurology-Campus di Germaneto, University "Magna Graecia", Catanzaro, Italy. CNR ISN UOS, Roccelletta di Borgia, Catanzaro, Italy.

Autori CNR:

  • VIRGINIA ANDREOLI
  • MANUELA CARACCIOLO
  • RITA CITTADELLA
  • CARMELA COLICA
  • MARIA LIGUORI
  • PATRIZIA SPADAFORA

Lingua: inglese

Abstract: Background: 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.

Lingua abstract: inglese

Pagine da: 574

Pagine a: 578

Pagine totali: 5

Rivista:

Alzheimer's & dementia Elsevier,
Paese di pubblicazione: Stati Uniti d'America
Lingua: inglese
ISSN: 1552-5279

Numero volume: 11/2011;

Numero fascicolo: 7

DOI: 10.1016/j.jalz.2011.02.010

Referee: Sė: Internazionale

Stato della pubblicazione: Published version

Indicizzato da: ISI Web of Science (WOS) [000297387300004]

Parole chiave:

  • Alzheimer's disease
  • amyloid-?
  • ?-Secretase
  • Presenilin enhancer-2 gene
  • mutational analysis
  • gene dosage.

Strutture CNR:

 
Torna indietro Richiedi modifiche Invia per email Stampa
Home Il CNR  |  I servizi News |   Eventi | Istituti |  Focus