Improving the diagnostic outcomes of patients with mitochondrial disease
Genetic disorders affecting mitochondrial OXPHOS constitute the most common form of inherited metabolic disease, affecting ~1/5000 births. There are few, if any proven treatments. The diagnosis rate for mitochondrial disease is only ~60% and those lucky enough to receive a molecular diagnosis often wait months or years. With our collaborator Prof. David Thorburn at the Murdoch Children's Research Institute, our lab is developing the use of quantitative proteomics to complement the existing tools in the diagnosis of mitochondrial disease.
For example, we and our collaborators recently identified a number of patients with mutations in the gene encoding mitochondrial ribosome subunit MRPS34 (Lake et al., 2017 Am J Hum Genet). The mitochondrial ribosome is required for the synthesis of all 13 mtDNA encoded subunits of the OXPHOS system. Using quantitative proteomics tools that we developed, we could not only identify MRPS34 as the most affected mitochondrial protein in the patient (Figure 1A), but also show the downstream effect on the mitochondrial OXPHOS system (Figure 1B) and the impact of the mutation on the assembly of the mitochondrial ribosome (Figure. 2).
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