期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 24, 期 7, 页码 -出版社
MDPI
DOI: 10.3390/ijms24076377
关键词
Alzheimer's disease; ceruloplasmin; copper; non-bound ceruloplasmin copper; metals; dementia; executive functions; dopamine; Iron; G-protein; RGS7; stop-loss mutation
Alzheimer's disease (AD), a type of dementia, has an unclear cause. A meta-analysis confirmed the involvement of copper (Cu) in AD, showing decreased Cu levels in AD brain specimens and increased Cu levels in serum/plasma samples. Non-bound ceruloplasmin Cu (non-Cp Cu) was proposed as a biomarker for a Cu subtype of AD (CuAD subtype). Evaluating non-Cp Cu reliability in classifying AD subtypes based on cognitive profiles confirmed its significance and identified potential therapeutic options.
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 mu mol/L) and CuAD (non-Cp Cu > 1.6 mu mol/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 RGS7 gene (MIM*602517), which encodes for Regulator of G Protein Signaling 7. Non-Cp Cu as an add-on test in the AD diagnostic pathway can provide relevant information about the underlying pathological processes in subtypes of AD and suggest specific therapeutic options.
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