ATP7B and Alzheimer disease

Rosanna Squitti, Mariacristina Siotto, Irena Ivanova, Mauro Rongioletti

Research output: Chapter in Book/Report/Conference proceedingChapter


Copper is an essential micronutrient, catalyst, or component of many metalloproteins and enzymes in physiological cellular functioning. Inborn error of copper excretion is the cause of Wilson disease (WD), a rare autosomal recessive disorder caused by mutations of the ATP7B gene, typified by increased levels in plasma copper not bound to ceruloplasmin (nCp-Cu, also known as “free” copper). The expansion of this plasma copper component is toxic since it can cross the blood-brain barrier and increase the labile pool of the metal in the brain. Meta-analyses have shown that nCp-Cu component increases also in Alzheimer disease (AD), the most common form of dementia, caused by the complex interaction and still mostly unknown factors. A recent study provides new insight into the pathophysiology of copper homeostasis in AD, likely originating from the same WD altered pathway but less severely damaged, being ATP7B variants associated with the increase of susceptibility for AD. Keeping clear the different etiology of the two diseases, we have posited the hypothesis that the AD typified by failure of copper control may represent a heterozygote form of WD.

Original languageEnglish
Title of host publicationClinical and Translational Perspectives on WILSON DISEASE
Number of pages10
ISBN (Electronic)9780128105320
ISBN (Print)9780128105337
Publication statusPublished - Jan 1 2018


  • Alzheimer disease
  • APT7B
  • Ceruloplasmin
  • Copper
  • Dementia
  • Wilson disease

ASJC Scopus subject areas

  • Medicine(all)


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