A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease

Giuliana Saltini, Roberto Dominici, Carlo Lovati, Monica Cattaneo, Stefania Michelini, Giulia Malferrari, Andrea Caprera, Luciano Milanesi, Dario Finazzi, Pierluigi Bertora, Elio Scarpini, Daniela Galimberti, Eliana Venturelli, Massimo Musicco, Fulvio Adorni, Claudio Mariani, Ida Biunno

Research output: Contribution to journalArticlepeer-review


Alzheimer's disease (AD) is considered to be a conformational disease arising from the accumulation of misfolded and unfolded proteins in the endoplasmic reticulum (ER). SEL1L is a component of the ER stress degradation system, which serves to remove unfolded proteins by retrograde degradation using the ubiquitin-proteosome system. In order to identify genetic variations possibly involved in the disease, we analysed the entire SEL1L gene sequence in Italian sporadic AD patients. Here we report on the identification of a new polymorphism within the SEL1L intron 3 (IVS3-88 A>G), which contains potential binding sites for transcription factors involved in ER-induced stress. Our statistical analysis shows a possible role of the novel polymorphism as independent susceptibility factor of Alzheimer's dementia.

Original languageEnglish
Pages (from-to)53-58
Number of pages6
JournalNeuroscience Letters
Issue number1-2
Publication statusPublished - May 1 2006


  • Alzheimer's disease
  • ER-associated degradation (ERAD)
  • Genetics
  • Polymorphism
  • SEL1L

ASJC Scopus subject areas

  • Neuroscience(all)


Dive into the research topics of 'A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease'. Together they form a unique fingerprint.

Cite this