MITO - mitochondrial disease

Who does it affect?

• One baby is born in Australia each week with a severe form of mitochondrial disease. This equates to about one in every 5,000 births.
• Currently, up to 40 per cent of cases go undiagnosed.
• The disease can occur at birth or later in life. Sometimes symptoms can appear suddenly after a stress like a viral illness.
• Sometimes referred to as Mito, it is often summarised as being able to cause any symptom, in any organ, at any age. 

Our mitochondrial research

Our research aims to diagnose all children with mitochondrial disease to end an often long and painful diagnostic odyssey. This involves identifying new disease-causing genes and streamlining diagnostic processes.

We are determining how different genes cause the disease and trialling potential treatments.

We are researching mitochondrial diseases including Alpers syndrome, Barth syndrome, Leigh syndrome, Lethal infantile mitochondrial disease, MELAS, mitochondrial DNA disorders, mitochondrial encephalopathy, mitochondrial myopathy, cardiomyopathy and cytopathy, OXPHOS disease, respiratory chain disease, pyruvate dehydrogenase deficiency and Sengers syndrome.

Our vision

At MCRI, we are working to gain a better understanding of how mitochondrial disease is caused and progresses, to enable couples to access reproductive options and to find treatments or even cures. We also want to make faster and more accurate genetic diagnosis possible for all families.

Where to next?

We are using cutting-edge multi-omic technologies including long-read DNA sequencing, RNA sequencing and quantitative proteomics to tackle the most difficult to diagnose cases of mitochondrial disease, with the aim of accurately obtaining a genetic diagnosis for all children and families without the need for a diagnostic odyssey.