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The structural NDUFS1, NDUFS2, NDUFV1, and NDUFS4 genes are mutational hot spot genes for isolated complex I deficiency.
Independent of the order of addition, the weights of isolated complex were approximately equal to those calculated on the basis of reaction stoichiometry.
One of the most common biochemical defects of mitochondria leading to Leigh syndrome is isolated complex I deficiency [5], [12].
The constitutive activity of the isolated complex suggested a change of cytochrome b558 conformation from an inactive to an active state [7].
Kapβ proteins are involved in the import and export of proteins and RNAs from the nucleus, often as a heterodimers with karyopherin α, which we did not detect in the isolated complex.
Furthermore, patients with nuclear-inherited isolated complex I deficiencies show a decrease in the amount of catalytically active complex I and increased rates of ROS production [33], [34], and a mutation in a component of complex II of Caenorhabditis elegans causes oxidative stress and aging [35].
Surprisingly, we observed more isolated complex IV deficiency than isolated complex I deficiency.
The metal content, radical content, and activity of the isolated complex was measured as described above.
The mechanism of O2− production by isolated complex I is now reasonably well understood [ 28, 85].
Identification of an isolated complex deficiency led us to sequence mtDNA genes coding for the complex I subunits.
For isolated complex, 0.05% (w/v) asolectin and 0.05% (w/v) CHAPS were added to NADH DQ oxidoreduction assays.
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