RESEARCH EQUIPMENT GRANT

Mitochondrial disease occurs when the mitochondria – the power plants of cells – fail to produce enough energy for cell or organ function. In Australia, at least 60 babies are born every year with a severe type of mitochondrial disease. With over 280 forms of the disease identified, diagnosis is unreliable and slow. While new diagnostic methods like whole genome DNA sequencing can quickly sequence a person’s entire genetic blueprint, the complexity of the genome and variation between different people means that genome sequencing alone yields a diagnosis in at best 60% of cases. We were one of the first in the world to show that mass-spectrometry can work together with genome sequencing to improve the rate of mitochondrial disease diagnosis. Unlike genome sequencing, this next-generation technique analyses all the proteins found in the cells to highlight defects with the cellular machinery. The data are used by researchers to interpret the volumes of genetic information gleaned from genome sequencing. This leads to a much more rapid diagnosis than genome sequencing alone. Although extremely promising, mass-spectrometry as a technique for diagnosis of mitochondrial disease is still in development.

Through the support of the Mito Foundation we will purchase a state-of-the-art mass-spectrometer that will be used in the diagnosis of existing patients with mitochondrial disease, but also contribute to the development of the technique with the eventual goal of having it accredited for routine diagnostic use.