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Lookup NU author(s): Dr Andreas Roos, Dr Oksana Pogoryelova, Dr Sally Spendiff, Professor Hanns Lochmuller
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2024 by the authors. GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase)/N-acetylmannosamine kinase (ManNAc kinase) gene (GNE), clinically resulting in the loss of ambulation within 10–20 years from the onset of the initial symptoms. The disease’s mechanism is poorly understood and non-invasive biomarkers are lacking, hindering effective therapy development. Based on the available evidence, we employed a lipidomic approach to study the serum lipid profile of GNE patients. The multivariate statistical analysis revealed a downregulation of carnitines, as well as of lysophosphatidylcholines, in sera samples derived from GNEM patients. Furthermore, we identified lower levels of sphingomyelins and, concomitantly, high levels of ceramides in serum samples from GNEM patients when compared to control samples derived from healthy donors. Moreover, the GNEM serum samples showed the upregulation of Krebs cycle intermediates, in addition to a decrease in oxaloacetic acid. The correlated data gathered in this study can offer a promising diagnostic panel of complex lipids and polar metabolites that can be used in clinic for GNEM in terms of a metabolic fingerprint measurable in a minimally invasive manner.
Author(s): Manis C, Casula M, Roos A, Hentschel A, Vorgerd M, Pogoryelova O, Derksen A, Spendiff S, Lochmuller H, Caboni P
Publication type: Article
Publication status: Published
Journal: Molecules
Year: 2024
Volume: 29
Issue: 21
Online publication date: 04/11/2024
Acceptance date: 19/10/2024
Date deposited: 19/11/2024
ISSN (electronic): 1420-3049
Publisher: MDPI
URL: https://doi.org/10.3390/molecules29215211
DOI: 10.3390/molecules29215211
Data Access Statement: Data are contained within the article and Supplementary Materials.
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