The observations obtained in the SHRSP reveal a key role of Ndufc2 in complex I assembly, a critical step for an appropriate complex I activity and for the whole OXPHOS
function (Figure 1).
4] Nonstandard abbreviations: CoQ10, ubiquinone or coenzyme Q10; OXPHOS
, oxidative phosphorylation; MS, mass spectrometry; LC-MS/MS, liquid chromatography-tandem MS; IS, internal standard; ESI, electrospray ionization; LOD, limit of detection; LOQ, limit of quantification; CS, citrate synthase.
Defects in fatty acid b-oxidation secondary to OXPHOS
disorders may be reflected by elevations in blood carnitine and acylcarnitine levels.
sup] Complex V or ATP synthase, the final enzyme of the OXPHOS
system, enables protons to flow back to the matrix and uses the released energy to synthesize ATP.
We used galactose-based medium, which drives the cell toward the OXPHOS
system for ATP production, thereby increasing the differences between control and patient fibroblasts (14, 15), for subsequent experiments in fibroblasts.
60) The importance of OXPHOS
has been studied by using mitochondrial inhibitors.
MitoTox[TM] provides a solution for measuring every known xenobiotic mito-toxic mechanism, from direct effects on OXPHOS
to alteration of mitochondrial biogenesis to induction of apoptosis and everything in between, so the results from this study should provide a very comprehensive data set to inform future drug development.
However, the expression of alternative oxidases and NADH dehydrogenases from urochordates and fungi in mammalian cultured cells and in the fruitfly Drosophila melanogaster has proven to be benign and to counteract deleterious effects of defective OXPHOS
systems, inspiring therapeutic possibilities for mitochondrial and related diseases.
This is done through a process called oxidative phosphorylation, or OxPhos
Deficiencies have been found in all OXPHOS
complexes, PDHc, the TCA cycle (3), and ANT.
RGCs, brain, and kidneys, the most affected sites in the LHON patient, are all high-energy demanding, so they rely more on OXPHOS
This process is called oxidative phosphorylation--or OxPhos
, for short (Rich 2003).
After blocking, PVDF membranes were incubated with both primary antibodies, 3 mg/L OXPHOS
cocktail and 1 mg/L antiporin, diluted in PBST containing 10 g/L dried milk powder for 2 h at room temperature or overnight at 4[degrees]C.
Human F1F0 ATP synthase, mitochondrial ultrastructure and OXPHOS
impairment: a (super-)complex matter?
Only 13 of ~85 protein subunits that make up this complex OXPHOS
system are encoded by the mitochondrial genome.