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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Detalles Bibliográficos
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
Descripción
Sumario: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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