Research into mitochondrial disease (mito) is a core pillar of Mito Foundation's work. Only through research will we one day find cures for mito and advancements to improve the quality of life for people impacted by mito.

Many hardworking researchers are committed to this goal, such as Dr Daniella Hock, who conducts research into mito and its diagnosis.

We sat down with Dr Hock to find out more about her work and its benefit to the mito community.

Dr Hock, when did you first begin your work in mito research, and what attracted you to this particular field?

My career in mito research started in 2017 when I met Dr. David Stroud during an open day event at The University of Melbourne. David was starting his own laboratory in the coming year and had a couple of projects I could choose to work on. I remember reading a section he wrote about mitochondrial disease and diagnostics where “approximately 50% of the patients suspected of mitochondrial disease remain genetically undiagnosed”. I immediately thought that there must be something that can be done to improve this. I had previously worked with genetic diagnosis in a private company in Brazil and I wanted to continue work in the field of diagnostics, which made the mito diagnostics project the perfect fit.

In the time that you’ve researched mito, what are some of your findings that will help the mito community? How will they impact the lives of people with mito?

My research has mainly been focused on developing quantitative proteomics to improve the diagnosis of mito. Over the past years, our proteomics pipeline has helped achieve a diagnosis for over 25 mito patients as well as the identification of four new disease genes. This research means that other patients around the world can be promptly diagnosed as the link between the disease and the genetics has been established. I also discovered a new candidate disease gene called HIGD2A. This gene has not yet been linked to mito, but our research shows that a defect in this gene can cause impaired mitochondrial function, leading to mito. This means that if a patient is identified with mutations in HIGD2A, a diagnosis can be more rapidly achieved as this gene has now been associated with mito.

What is proteomics?

Proteomics is the study of proteins in our cells. Genes encode proteins and proteins dictate cell function. Understanding proteins can help identify new genes that might be causing mitochondrial disease, offering new avenues for faster diagnosis.

What else have you seen in the field of mito research that may excite the community?

Working towards improving the diagnostic rates of mito has been a rewarding field for me, but a question I still had was following what can be done for patients after they had been diagnosed with mito. We have been collaborating with Prof. Jozef Gecz and his research group from The University of Adelaide on the use of a recent therapeutic strategy called Splice-Switching antisense Oligonucleotides, or SSO. In this study, skin-derived fibroblast cells from a patient with mito had the defect corrected for utilising SSOs. This research is paving the way to potentially develop a new treatment option for some causes of mito. SSOs have a similar mode of action to ASOs (Anti-Sense Oligonucleotide) which prevents the expression of a defective gene. There are a few ASOs therapies that have been FDA-approved, such as the one for the treatment of spinal muscular atrophy (SMA), therefore there is the potential to investigate the use of SSOs/ASOs in treating some causes of mito.

How has Mito Foundation helped in your research journey?

The Mito Foundation has been the bridge between the researchers and patients and their families affected by mito. This connection allows us to be closer to patients and see the impact of our work on their lives. The Mito Foundation has also funded an instrument called mass spectrometer which we use to do our quantitative proteomics tests. This has allowed us to run the tests in a shorter period of time. On a more personal level, the Mito Foundation has also awarded me with a Mito Foundation PhD Top-up Scholarship. The scholarship allowed me to attend four international conferences to present our research work and develop new collaborations.

What's next for you? Are there any potential breakthroughs on the horizon, and what needs to happen to bring those within reach?

My efforts have focused on developing a rapid proteomics pipeline for acute care. This pipeline will use blood as sample type instead of fibroblasts. The aim is to reduce sample collection invasiveness (from skin biopsy to blood draw) while also decreasing the time of diagnosis from weeks - or in some cases years or even decades - to days. If we can develop this, we will be able to help patients that are currently in NICU/PICU. Once we establish the pipelines to analyse clinical samples, we are also aiming to achieve NATA/RCPA accreditation to move our test from the research setting into the clinics.