Case Studies for MS601, MS602 & MS603
1) A case of MELAS caused by a mtDNA mutation. Fibroblasts show a mosaicism of normal and affected cells in the proportion of 9:1 respectively for both complexes I and IV. At this low level of mutant mtDNA i.e. the low heteroplasmy of mutation, the defect is difficult to detect by Western Blotting or from activity measurements, but is clear from the immunocytochemistry.
2) A case of pyruvate dehydrogenase deficiency caused by a mutation in E1α which results in loss of the polypeptide. Fibroblasts show no PDH E1α staining (MS602).
The PDH deficiency cannot be identified by Western blotting with MS601 (which only analyses for OXPHOS complex deficiencies) but can be confirmed using the Western blotting kit for PDH (MSP02).
3) A case of Complex I deficiency due to a nuclear gene mutation, probably in an assembly factor for the complex. The defect can be detected by immunocytochemistry (MS602) and in Western Blotting (MS601). The failed assembly of complex I is confirmed by BN-PAGE (MS603). In this case the levels of residual partial assemblies of complex I is too low to be detected with the Complex I mAb.