Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Abela L, Spiegel R, Crowther LM, Klein A, Steindl K, Papuc SM, Joset P, Zehavi Y, Rauch A, Plecko B, Simmons TL. PLoS ONE 12(5): e0176363. Doi:10.1371/journal.pone.0176363

Neurotoxicity induced by mitochondrial oxidative stress has been demonstrated for several neurodegenerative disorders. Furthermore, reduced aconitase activity has been found in Huntington disease, progressive supranuclear palsy, Friedreich ataxia and Alzheimer’s disease.
We demonstrate that metabolome profiling is a powerful tool to characterize disease mechanisms and pathogenicity of mutations.



Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency