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

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Esterhuizen , K , Lindeque , J Z , Mason , S , van der Westhuizen , F H , Suomalainen , A , Hakonen , A H , Carroll , C J , Rodenburg , R J , de Laat , P B , Janssen , M C H , Smeitink , J A M & Louw , R 2019 , ' A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS) ' , Mitochondrion , vol. 45 , pp. 38-45 . https://doi.org/10.1016/j.mito.2018.02.003

Title: A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)
Author: Esterhuizen, Karien; Lindeque, J. Zander; Mason, Shayne; van der Westhuizen, Francois H.; Suomalainen, Anu; Hakonen, Anna H.; Carroll, Christopher J.; Rodenburg, Richard J.; de Laat, Paul B.; Janssen, Mirian C. H.; Smeitink, Jan A. M.; Louw, Roan
Contributor organization: HUSLAB
STEMM - Stem Cells and Metabolism Research Program
Anu Wartiovaara / Principal Investigator
Research Programs Unit
Research Programme for Molecular Neurology
University of Helsinki
Date: 2019-03
Language: eng
Number of pages: 8
Belongs to series: Mitochondrion
ISSN: 1567-7249
DOI: https://doi.org/10.1016/j.mito.2018.02.003
URI: http://hdl.handle.net/10138/300712
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 better treatment options for the disease.
Subject: MELAS
m.3243A > G
Metabolomics
Mutation
Metabolism
mtDNA
METABOLOMICS
PREVALENCE
FEATURES
DEFECTS
3111 Biomedicine
1182 Biochemistry, cell and molecular biology
Peer reviewed: Yes
Rights: cc_by_nc_nd
Usage restriction: openAccess
Self-archived version: acceptedVersion


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