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. 2010 Dec 8;19(3):270–274. doi: 10.1038/ejhg.2010.204

Figure 2.

Figure 2

The mutations in NDUFA10 result in decreased activity and amount of complex I. (a) BN-PAGE analysis followed by an in-gel activity assay demonstrates a decreased complex I activity in fibroblasts of the patient compared with control cells. The amount of subunit NDUFA9 is also severely reduced, indicating a decreased amount of whole complex I. The amount of complex II is not affected. (b) SDS-PAGE analysis and immunoblotting with an antibody directed against NDUFA10 shows that the amount of NDUFA10 is decreased in patient fibroblasts. The amount of NDUFA9 is also reduced, suggesting a reduction in amount of complex I. The amount of complex II is not affected. Abbreviations: C, control; P-A10, patient with NDUFA10 mutations; C, I, II, complexes I, II; IGA, in-gel activity; SDHA, succinate dehydrogenase complex subunit A.