Figure 3.

The mutations in NDUFA10 result in accumulation of subcomplexes of complex I. Two-dimensional BN/SDS-PAGE analysis followed by immunoblotting with antibodies directed against NDUFS3 to investigate the early steps of the complex I assembly, and ND1 to examine the incorporation of the mtDNA encoded subunits, shows the accumulation of mainly the subcomplexes 4 and 5 in the index patient. The subcomplexes are numbered according the assembly model described by Vogel and colleagues.²⁴ Abbreviations: C, control; P-A10, patient with NDUFA10 mutations; C I, complex I.