Document Detail


Biomarkers for mitochondrial respiratory chain disorders.
MedLine Citation:
PMID:  20941643     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
Anu Suomalainen
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Publication Detail:
Type:  Journal Article     Date:  2010-10-13
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  34     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  277-82     Citation Subset:  IM    
Affiliation:
Research Program of Molecular Neurology, Biomedicum-Helsinki, r.C523B, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland, anu.wartiovaara@helsinki.fi.
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