1. A novel polymorphism in SEL1L confers susceptibility to Alzheimer's disease
- Author
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Roberto Dominici, Carlo Lovati, Giulia Malferrari, Dario Finazzi, Massimo Musicco, Monica Cattaneo, Ida Biunno, Luciano Milanesi, Andrea Caprera, Giuliana Saltini, Pierluigi Bertora, Elio Scarpini, Claudio Mariani, Stefania Michelini, Eliana Venturelli, Daniela Galimberti, and Fulvio Adorni
- Subjects
Male ,medicine.medical_specialty ,Disease ,Biology ,polymorphism ,Alzheimer Disease ,Internal medicine ,Genetic variation ,medicine ,Humans ,Dementia ,Genetic Predisposition to Disease ,genetics ,Transcription factor ,Aged ,Genetics ,Polymorphism, Genetic ,General Neuroscience ,Endoplasmic reticulum ,Intron ,Proteins ,Alzheimer's disease ,SEL1L ,medicine.disease ,Introns ,ER-associated degradation (ERAD) ,Endocrinology ,Unfolded protein response ,Female - Abstract
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. (C) 2005 Published by Elsevier Ireland Ltd.
- Published
- 2006
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