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4 November 2024

NEW Research article

Can lipidomics provide additional insights on disease mechanisms in GNE Myopathy?

The ProDGNE team led by Pierluigi Caboni analysed the lipid profile of serum samples from 32 GNEM patients compared to control samples derived from healthy donors.

To evaluate how myopathy progression affects serum lipid profile, three patient’s lipid profile (from a period of approximately 14 months) were examined longitudinally. This revealed a downregulation of carnitines and low levels of free fatty acids which may indicate a potential change in muscle metabolism along with mitochondrial dysfunction.

Further evaluation in the context of disease progression, showed a a significative alteration of Krebs cycle metabolites, a decrease in lysophosphocholine, a significant increase in ceramides, and a concomitant reduction in sphingomyelin levels which are crucial for cellular membrane integrity and energy metabolism in muscle cells.

Future research should focus on expanding these findings through a larger GNEM cohort study, as well as other similar disease cohorts, to determine whether these differential metabolites are specific to GNEM. 

doi.org/10.3390/molecules29215211

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