Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Abela, L; Spiegel, R; Crowther, LM; Klein, A; Steindl, K; Papuc, SM; Joset, P; Zehavi, Y; Rauch, A; Plecko, B; Simmons, TL.
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
PLoS One. 2017; 12(5):e0176363-e0176363
Doi: 10.1371/journal.pone.0176363
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- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
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- Abstract:
- Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described as a neurodegenerative disease of autosomal recessive inheritance. To date there is no biomarker for ACO2 deficiency and diagnosis relies on genetic analysis. Here we report global metabolic profiling in eight patients with ACO2 deficiency. Using an LC-MS-based metabolomics platform we have identified several metabolites with affected plasma concentrations including the tricarboxylic acid cycle metabolites cis-aconitate, isocitrate and alpha-ketoglutarate, as well as phosphoenolpyruvate and hydroxybutyrate. Taken together we report a diagnostic metabolic fingerprint for mitochondrial aconitase 2 deficiency.
- Find related publications in this database (using NLM MeSH Indexing)
- Aconitate Hydratase - deficiency
- Aconitate Hydratase - genetics
- Aconitic Acid - blood
- Adolescent -
- Biomarkers - blood
- Child -
- Child, Preschool -
- Female -
- Heredodegenerative Disorders, Nervous System - blood
- Heredodegenerative Disorders, Nervous System - diagnosis
- Humans -
- Hydroxybutyrates - blood
- Isocitrates - blood
- Ketoglutaric Acids - blood
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- Metabolomics - methods
- Phosphoenolpyruvate - blood