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| Content Provider | Springer Nature Link |
|---|---|
| Author | Squitti, Rosanna Polimanti, Renato Siotto, Mariacristina Bucossi, Serena Ventriglia, Mariacarla Mariani, Stefania Vernieri, Fabrizio Scrascia, Federica Trotta, Laura Rossini, Paolo Maria |
| Copyright Year | 2013 |
| Abstract | To understand the role of the key copper-regulating gene, ATP7B, in copper dyshomeostasis associated with Alzheimer’s disease (AD), we analyzed the serum levels of copper, ceruloplasmin and ‘free’ (i.e., non-ceruloplasmin bound) copper in 399 patients with AD and 303 elderly healthy controls. We also performed analyses of informative variants of ATP7B. AD patients had higher levels of copper and free copper than controls. Individuals with free copper levels higher than 1.6 μmol/L (the upper value of the normal reference range) were more frequent among cases (p < 0.001). Among these individuals, those who were carriers of the ATP7B variants accounted for a large proportion of the free copper levels, specifically in the AD group (p < 0.01). Our results suggest the existence of a ‘copper dysfunction’ phenotype of sporadic AD which has a genetic basis. They also suggest that free copper is a risk factor for this disorder, modulating additional pathways leading to the disease cascade. |
| Starting Page | 515 |
| Ending Page | 522 |
| Page Count | 8 |
| File Format | |
| ISSN | 15351084 |
| Journal | NeuroMolecular Medicine |
| Volume Number | 15 |
| Issue Number | 3 |
| e-ISSN | 15591174 |
| Language | English |
| Publisher | Springer US |
| Publisher Date | 2013-06-13 |
| Publisher Place | Boston |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Alzheimer’s disease Copper Ceruloplasmin ATP7B Wilson’s disease Neurosciences Neurology Internal Medicine |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology Molecular Medicine Cellular and Molecular Neuroscience |
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