Is the urea cycle involved in Alzheimer's disease?

Franck Hansmannel, Adeline Sillaire, M. Ilyas Kamboh, Corinne Lendon, Florence Pasquier, Didier Hannequin, Geoffroy Laumet, Anais Mounier, Anne Marie Ayral, Steven T. Dekosky, Jean Jacques Hauw, Claudine Berr, David Mann, Philippe Amouyel, Dominique Campion, Jean Charles Lambert

    Research output: Contribution to journalArticlepeer-review


    Since previous observations indicated that the urea cycle may have a role in the Alzheimer's disease (AD) process, we set out to quantify the expression of each gene involved in the urea cycle in control and AD brains and establish whether these genes could be genetic determinants of AD. We first confirmed that all the urea cycle enzyme genes are expressed in the AD brain. The expression of arginase 2 was greater in the AD brain than in the control brain. The presence of the rare arginase 2 allele rs742869 was associated with an increase in the risk of AD in men and with an earlier age-at-onset for both genders. None of the other genes in the pathway appeared to be differentially expressed in the AD brain or act as genetic determinants of the disease. © 2010 - IOS Press and the authors. All rights reserved.
    Original languageEnglish
    Pages (from-to)1013-1021
    Number of pages8
    JournalJournal of Alzheimer's Disease
    Issue number3
    Publication statusPublished - 2010


    • Alzheimer's disease
    • ammonium
    • arginase
    • association study
    • citrulline NO cycle
    • nitric oxide
    • polyamines
    • urea cycle


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