PuSH - Publication Server of Helmholtz Zentrum München

Solovyev, N. ; Lucio, M. ; Mandrioli, J.* ; Forcisi, S. ; Kanawati, B. ; Uhl, J. ; Vinceti, M.* ; Schmitt-Kopplin, P. ; Michalke, B.

Interplay of metallome and metabolome in amyotrophic lateral sclerosis: A study on cerebrospinal fluid of patients carrying disease-related gene mutations.

ACS Chem. Neurosci. 14, 3035-3046 (2023)
Publ. Version/Full Text DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
Amyotrophic lateral sclerosis (ALS) is a lethal progressive neurodegenerative disease, characterized by a loss of function of upper and lower motor neurons. This study aimed to explore probable pathological alterations occurring in individuals with ALS compared to neurologically healthy controls through the analysis of cerebrospinal fluid (CSF), a medium, which directly interacts with brain parenchyma. A total of 7 ALS patients with disease-associated mutations (ATXN2, C9ORF72, FUS, SOD1, and TARDBP) and 13 controls were included in the study. Multiple analytical approaches were employed, including metabolomic and metallomics profiling, as well as genetic screening, using CSF samples obtained from the brain compartment. Data analysis involved the application of multivariate statistical methods. Advanced hyphenated selenium and redox metal (iron, copper, and manganese) speciation techniques and nontargeted Fourier transform ion cyclotron resonance mass spectrometry-based metabolomics were used for data acquisition. Nontargeted metabolomics showed reduced steroids, including sex hormones; additionally, copper and manganese species were found to be the most relevant features for ALS patients. This indicates a potential alteration of sex hormone pathways in the ALS-affected brain, as reflected in the CSF.
Impact Factor
Scopus SNIP
Altmetric
5.000
0.000
Tags
Annotations
Special Publikation
Hide on homepage

Edit extra information
Edit own tags
Private
Edit own annotation
Private
Hide on publication lists
on hompage
Mark as special
publikation
Publication type Article: Journal article
Document type Scientific Article
Keywords Amyotrophic Lateral Sclerosis ; Brain Steroids ; Disease-related Mutations ; Metabolomics ; Metallomics; Alzheimers-disease; Mouse Model; Copper; Selenium; Risk; Iron; Epidemiology; Pesticides; Manganese; Hormones
Language english
Publication Year 2023
HGF-reported in Year 2023
e-ISSN 1948-7193
Quellenangaben Volume: 14, Issue: 17, Pages: 3035-3046 Article Number: , Supplement: ,
Publisher American Chemical Society (ACS)
Publishing Place 1155 16th St, Nw, Washington, Dc 20036 Usa
Reviewing status Peer reviewed
POF-Topic(s) 30202 - Environmental Health
90000 - German Center for Diabetes Research
Research field(s) Environmental Sciences
PSP Element(s) G-504800-002
G-504800-001
G-501900-482
Scopus ID 85169847620
PubMed ID 37608584
Erfassungsdatum 2023-10-06