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Rus, C.M.* ; Polla, D.L.* ; Di Bucchianico, S. ; Fischer, S.* ; Hartkamp, J.* ; Hartmann, G.* ; Alpagu, Y.* ; Cozma, C.* ; Zimmermann, R. ; Bauer, P.*

Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease.

Sci. Rep. 13:18550 (2023)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive disease primarily affecting the nervous system in children. It is caused by a pathogenic mutation in the CLN6 gene for which no therapy is available. Employing an untargeted metabolomics approach, we analyzed the metabolic changes in CLN6 subjects to see if this system could potentially yield biomarkers for diagnosis and monitoring disease progression. Neuronal-like cells were derived from human fibroblast lines from CLN6-affected subjects (n = 3) and controls (wild type, n = 3). These were used to assess the potential of a neuronal-like cell-based metabolomics approach to identify CLN6 distinctive and specific biomarkers. The most impacted metabolic profile is associated with sphingolipids, glycerophospholipids metabolism, and calcium signaling. Over 2700 spectral features were screened, and fifteen metabolites were identified that differed significantly between both groups, including the sphingolipids C16 GlcCer, C24 GlcCer, C24:1 GlcCer and glycerophospholipids PG 40:6 and PG 40:7. Of note, these fifteen metabolites were downregulated in the CLN6 disease group. This study is the first to analyze the metabolome of neuronal-like cells with a pathogenic mutation in the CLN6 gene and to provide insights into their metabolomic alterations. This could allow for the development of novel biomarkers for monitoring CLN6 disease.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ceroid-lipofuscinosis; Infantile; Glucosylceramide; Protein; Future; Forms
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 2045-2322
e-ISSN 2045-2322
Zeitschrift Scientific Reports
Quellenangaben Band: 13, Heft: 1, Seiten: , Artikelnummer: 18550 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed
Institut(e) Cooperation Group Comprehensive Molecular Analytics (CMA)
POF Topic(s) 30202 - Environmental Health
Forschungsfeld(er) Environmental Sciences
PSP-Element(e) G-504500-001
Förderungen NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research
Telethon Italy
Cell Line and DNA Bank of Genetic Movement Disorders and Mitochondrial Diseases, a member of the Telethon Network of Genetic Biobanks
The authors would like to thank the Cell Line and DNA Bank of Genetic Movement Disorders and Mitochondrial Diseases, a member of the Telethon Network of Genetic Biobanks (project no. GTB12001), funded by Telethon Italy, and the EuroBioBank Network for pro
DOI 10.1038/s41598-023-45789-7
WOS ID 001094020700019
Scopus ID 85175064093
PubMed ID 37899458
Erfassungsdatum 2023-11-28
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