Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome
Daniella H Hock, David RL Robinson, David A Stroud
Biochemical Journal | PORTLAND PRESS LTD | Published : 2020
Mitochondria produce the bulk of the energy used by almost all eukaryotic cells through oxidative phosphorylation (OXPHOS) which occurs on the four complexes of the respiratory chain and the F1-F0 ATPase. Mitochondrial diseases are a heterogenous group of conditions affecting OXPHOS, either directly through mutation of genes encoding subunits of OXPHOS complexes, or indirectly through mutations in genes encoding proteins supporting this process. These include proteins that promote assembly of the OXPHOS complexes, the post-translational modification of subunits, insertion of cofactors or indeed subunit synthesis. The latter is important for all 13 of the proteins encoded by human mitochondri..View full abstract
Awarded by National Health and Medical Research Council (NHMRC)
We acknowledge funding from the National Health and Medical Research Council (NHMRC Fellowship 1140851 to DAS). DHH is supported by a Melbourne International Research Scholarship and the Mito Foundation PhD Top-up Scholarship.