Cargando…
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
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 recessi...
Autores principales: | , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413020/ https://www.ncbi.nlm.nih.gov/pubmed/28463998 http://dx.doi.org/10.1371/journal.pone.0176363 |
_version_ | 1783233119809175552 |
---|---|
author | Abela, Lucia Spiegel, Ronen Crowther, Lisa M. Klein, Andrea Steindl, Katharina Papuc, Sorina Mihaela Joset, Pascal Zehavi, Yoav Rauch, Anita Plecko, Barbara Simmons, Thomas Luke |
author_facet | Abela, Lucia Spiegel, Ronen Crowther, Lisa M. Klein, Andrea Steindl, Katharina Papuc, Sorina Mihaela Joset, Pascal Zehavi, Yoav Rauch, Anita Plecko, Barbara Simmons, Thomas Luke |
author_sort | Abela, Lucia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5413020 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-54130202017-05-14 Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency Abela, Lucia Spiegel, Ronen Crowther, Lisa M. Klein, Andrea Steindl, Katharina Papuc, Sorina Mihaela Joset, Pascal Zehavi, Yoav Rauch, Anita Plecko, Barbara Simmons, Thomas Luke PLoS One Research Article 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. Public Library of Science 2017-05-02 /pmc/articles/PMC5413020/ /pubmed/28463998 http://dx.doi.org/10.1371/journal.pone.0176363 Text en © 2017 Abela et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Abela, Lucia Spiegel, Ronen Crowther, Lisa M. Klein, Andrea Steindl, Katharina Papuc, Sorina Mihaela Joset, Pascal Zehavi, Yoav Rauch, Anita Plecko, Barbara Simmons, Thomas Luke Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency |
title | Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency |
title_full | Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency |
title_fullStr | Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency |
title_full_unstemmed | Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency |
title_short | Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency |
title_sort | plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (aco2) deficiency |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413020/ https://www.ncbi.nlm.nih.gov/pubmed/28463998 http://dx.doi.org/10.1371/journal.pone.0176363 |
work_keys_str_mv | AT abelalucia plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT spiegelronen plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT crowtherlisam plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT kleinandrea plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT steindlkatharina plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT papucsorinamihaela plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT josetpascal plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT zehaviyoav plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT rauchanita plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT pleckobarbara plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency AT simmonsthomasluke plasmametabolomicsrevealsadiagnosticmetabolicfingerprintformitochondrialaconitaseaco2deficiency |