A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)

Mitochondrion
Karien EsterhuizenRoan Louw

Abstract

We used a comprehensive metabolomics approach to study the altered urinary metabolome of two mitochondrial myopathy, encephalopathy lactic acidosis and stroke like episodes (MELAS) cohorts carrying the m.3243A>G mutation. The first cohort were used in an exploratory phase, identifying 36 metabolites that were significantly perturbed by the disease. During the second phase, the 36 selected metabolites were able to separate a validation cohort of MELAS patients completely from their respective control group, suggesting usefulness of these 36 markers as a diagnostic set. Many of the 36 perturbed metabolites could be linked to an altered redox state, fatty acid catabolism and one-carbon metabolism. However, our evidence indicates that, of all the metabolic perturbations caused by MELAS, stalled fatty acid oxidation prevailed as being particularly disturbed. The strength of our study was the utilization of five different analytical platforms to generate the robust metabolomics data reported here. We show that urine may be a useful source for disease-specific metabolomics data, linking, amongst others, altered one-carbon metabolism to MELAS. The results reported here are important in our understanding of MELAS and might lead to bette...Continue Reading

Citations

Nov 28, 2018·Expert Review of Neurotherapeutics·Josef Finsterer
Feb 19, 2019·Frontiers in Genetics·Elaina M MaldonadoShamima Rahman
Jan 14, 2021·Metabolomics : Official Journal of the Metabolomic Society·Karien EsterhuizenRoan Louw
Jan 20, 2021·The Journal of Clinical Investigation·Rohit SharmaVamsi K Mootha
Jan 25, 2021·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Karin TerburghRoan Louw
Nov 19, 2021·Metabolomics : Official Journal of the Metabolomic Society·Karin TerburghRoan Louw

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