Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer's Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an
Alzheimer’s disease
G-protein
Iron
RGS7
ceruloplasmin
copper
dementia
dopamine
executive functions
metals
non-bound ceruloplasmin copper
stop-loss mutation
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
28 Mar 2023
28 Mar 2023
Historique:
received:
23
02
2023
revised:
22
03
2023
accepted:
25
03
2023
medline:
14
4
2023
entrez:
13
4
2023
pubmed:
14
4
2023
Statut:
epublish
Résumé
Alzheimer's disease (AD) is a type of dementia whose cause is incompletely defined. Copper (Cu) involvement in AD etiology was confirmed by a meta-analysis on about 6000 participants, showing that Cu levels were decreased in AD brain specimens, while Cu and non-bound ceruloplasmin Cu (non-Cp Cu) levels were increased in serum/plasma samples. Non-Cp Cu was advocated as a stratification add-on biomarker of a Cu subtype of AD (CuAD subtype). To further circumstantiate this concept, we evaluated non-Cp Cu reliability in classifying subtypes of AD based on the characterization of the cognitive profile. The stratification of the AD patients into normal AD (non-Cp Cu ≤ 1.6 µmol/L) and CuAD (non-Cp Cu > 1.6 µmol/L) showed a significant difference in executive function outcomes, even though patients did not differ in disease duration and severity. Among the Cu-AD patients, a 76-year-old woman showed significantly abnormal levels in the Cu panel and underwent whole exome sequencing. The CuAD patient was detected with possessing the homozygous (c.1486T > C; p.(Ter496Argext*19) stop-loss variant in the
Identifiants
pubmed: 37047347
pii: ijms24076377
doi: 10.3390/ijms24076377
pmc: PMC10094789
pii:
doi:
Substances chimiques
Copper
789U1901C5
Ceruloplasmin
EC 1.16.3.1
RGS7 protein, human
0
RGS Proteins
0
Types de publication
Case Reports
Meta-Analysis
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Alzheimer's Association
ID : PTC-19-602325
Pays : United States
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