Hepatic mitochondrial dysfunction in Friedreich Ataxia

BACKGROUND: Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas. METHODS: We assessed hepatic mitochondrial function by (13)C-methionine-breath-test in 16 Friedreich atax...

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Autores principales: Stüwe, Sven H, Goetze, Oliver, Arning, Larissa, Banasch, Matthias, Schmidt, Wolfgang E, Schöls, Ludger, Saft, Carsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226643/
https://www.ncbi.nlm.nih.gov/pubmed/22085827
http://dx.doi.org/10.1186/1471-2377-11-145
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author Stüwe, Sven H
Goetze, Oliver
Arning, Larissa
Banasch, Matthias
Schmidt, Wolfgang E
Schöls, Ludger
Saft, Carsten
author_facet Stüwe, Sven H
Goetze, Oliver
Arning, Larissa
Banasch, Matthias
Schmidt, Wolfgang E
Schöls, Ludger
Saft, Carsten
author_sort Stüwe, Sven H
collection PubMed
description BACKGROUND: Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas. METHODS: We assessed hepatic mitochondrial function by (13)C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls. RESULTS: Patients exhaled significantly smaller amounts of (13)CO(2 )over 90 minutes. Maximal exhaled percentage dose of (13)CO(2 )recovery was reduced compared to controls. CONCLUSIONS: (13)C-methionine-breath-test indicates subclinical hepatic mitochondrial dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity.
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spelling pubmed-32266432011-11-30 Hepatic mitochondrial dysfunction in Friedreich Ataxia Stüwe, Sven H Goetze, Oliver Arning, Larissa Banasch, Matthias Schmidt, Wolfgang E Schöls, Ludger Saft, Carsten BMC Neurol Research Article BACKGROUND: Mitochondrial dysfunction due to respiratory chain impairment is a key feature in pathogenesis of Friedreich ataxia. Friedreich ataxia affects the nervous system, heart and pancreas. METHODS: We assessed hepatic mitochondrial function by (13)C-methionine-breath-test in 16 Friedreich ataxia patients and matched healthy controls. RESULTS: Patients exhaled significantly smaller amounts of (13)CO(2 )over 90 minutes. Maximal exhaled percentage dose of (13)CO(2 )recovery was reduced compared to controls. CONCLUSIONS: (13)C-methionine-breath-test indicates subclinical hepatic mitochondrial dysfunction in Friedreich ataxia but did not correlate with GAA repeat lengths, disease duration or disease severity. BioMed Central 2011-11-15 /pmc/articles/PMC3226643/ /pubmed/22085827 http://dx.doi.org/10.1186/1471-2377-11-145 Text en Copyright ©2011 Stüwe et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Stüwe, Sven H
Goetze, Oliver
Arning, Larissa
Banasch, Matthias
Schmidt, Wolfgang E
Schöls, Ludger
Saft, Carsten
Hepatic mitochondrial dysfunction in Friedreich Ataxia
title Hepatic mitochondrial dysfunction in Friedreich Ataxia
title_full Hepatic mitochondrial dysfunction in Friedreich Ataxia
title_fullStr Hepatic mitochondrial dysfunction in Friedreich Ataxia
title_full_unstemmed Hepatic mitochondrial dysfunction in Friedreich Ataxia
title_short Hepatic mitochondrial dysfunction in Friedreich Ataxia
title_sort hepatic mitochondrial dysfunction in friedreich ataxia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226643/
https://www.ncbi.nlm.nih.gov/pubmed/22085827
http://dx.doi.org/10.1186/1471-2377-11-145
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