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Erschienen in: Journal of Inherited Metabolic Disease 2/2011

01.04.2011 | Mitochondrial Medicine

Biomarkers for mitochondrial respiratory chain disorders

verfasst von: Anu Suomalainen

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 2/2011

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Abstract

Mitochondrial respiratory chain deficiencies are a group of more than 100 disorders of adults and children, with highly variable phenotypes. Their diagnosis is a great challenge, in spite of the fact that knowledge on their molecular genetic background has increased considerably during the last 20 years. Muscle biopsy is the key diagnostic procedure, including histological and biochemical analysis of mitochondria. Less invasive, specific and sensitive diagnostic tools based on serum biomarkers are still lacking. Recent technological developments, especially in mass spectrometry, enable novel tools for identification of local and global molecular consequences of mitochondrial respiratory chain dysfunction in patient samples. Furthermore, emerging disease models, especially genetically modified mice, offer unique materials to tackle pathophysiology with modern transcriptomic, proteomic, and metabolomic approaches. Identified molecular signals or metabolic fingerprints have the potential to be highly useful biomarkers for future diagnosis of mitochondrial respiratory chain disorders.
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Metadaten
Titel
Biomarkers for mitochondrial respiratory chain disorders
verfasst von
Anu Suomalainen
Publikationsdatum
01.04.2011
Verlag
Springer Netherlands
Erschienen in
Journal of Inherited Metabolic Disease / Ausgabe 2/2011
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-010-9222-3

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