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Mitochondrion. 2004 Sep;4(5-6):417-26. Epub 2004 Oct 1.

Immunological approaches to the characterization and diagnosis of mitochondrial disease.

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Institute of Molecular Biology, University of Oregon, Eugene, OR 97403-1229, USA.


Monoclonal antibodies (mAbs) are important tools in the diagnosis and characterization of mitochondrial diseases. They can be used in immunohistochemical and/or Western blotting approaches to identify misassembled OXPHOS complexes or pyruvate dehydrogenase deficiencies where the intact complex is not formed which is the great majority of cases. The advantage of antibody based approaches is that they can be quantitative, require very small amounts of tissue sample and are fast, simple and relatively cheap to perform. Here we provide details of the mAbs currently available and describe optimized protocols for both immunohistochemistry using patient fibroblasts as well as Western blotting using either cell culture or biopsy material.


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