title: Is the urea cycle involved in Alzheimer's disease?
abstract: 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.
authors.affiliation: INSERM U744, Lille, France.
authors.forename: Franck
authors.initials: F
authors.lastname: Hansmannel
authors.forename: Adeline
authors.initials: A
authors.lastname: Sillaire
authors.forename: M Ilyas
authors.initials: MI
authors.lastname: Kamboh
authors.forename: Corinne
authors.initials: C
authors.lastname: Lendon
authors.forename: Florence
authors.initials: F
authors.lastname: Pasquier
authors.forename: Didier
authors.initials: D
authors.lastname: Hannequin
authors.forename: Geoffroy
authors.initials: G
authors.lastname: Laumet
authors.forename: Anais
authors.initials: A
authors.lastname: Mounier
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Ayral
authors.forename: Steven T
authors.initials: ST
authors.lastname: DeKosky
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Hauw
authors.forename: Claudine
authors.initials: C
authors.lastname: Berr
authors.forename: David
authors.initials: D
authors.lastname: Mann
authors.forename: Philippe
authors.initials: P
authors.lastname: Amouyel
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Lambert
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D001119:Arginase / Q000235:genetics* / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D014508:Urea / Q000378:metabolism*
chemical_list: D014508:Urea; C477631:ARG2 protein, human; D001119:Arginase