Light up for MITO – Shining a light on Mitochondrial Disease Research

In recognition of World Mitochondrial Disease Week, we highlight the work of A/Prof Diana Stojanovski and A/Prof David Stroud, Dept of Biochemistry and Pharmacology and the Bio21 Molecular Science & Biotechnology Institute, in mitrochondrial disease research, and discuss the importance of awareness days for education, fundraising and advocacy.

World Mitochondrial Disease Week is on 18-24 September, and includes “Light up for MITO” on Saturday 23 September that will see landmarks across the world illuminated in green to raise awareness for Mitochondrial Disease. Federation Square in Melbourne will be among 97 Australian landmarks confirmed to take part.

Mitochondrial diseases are a group of rare genetic disorders that affect mitochondria, energy generating factories found in every cell of the body. “Mitochondrial diseases are in fact not that rare” explains Diana. “Mitochondrial diseases are the largest and most common group of inherited metabolic disorders. They comprise over 350 monogenic diseases and affect at least one child born each week in Australia.”

“Like almost all monogenic rare diseases, around half of those suspected of mitochondrial disease remain undiagnosed after a long diagnostic odyssey” says David, whose research specialisation in clinical proteomics has the potential to drastically improve traditional diagnostic rates.

The diseases are complex, typically severe, with sufferers of Mitochondrial disease experiencing a range of symptoms including hearing loss, seizures, stroke, heart failure, muscle weakness, and intellectual disability.

Awareness initiatives such as World Mitochondrial Disease Week and The Bloody Long Walk are important for families and patients, to give some airtime to this group of disorders that many members in the general community might not be aware exist. Diana adds “It provides the Mito community with a sense of acknowledgment that their struggle is real and important and warrants support.”

As researchers and educator, Diana and David agree

Days like Light up for Mito Day remind us of the significance of our work, that we have the capacity to impact people’s lives and make a real difference in society.

“A genetic diagnosis offers families access to approaches such a prenatal and preimplantation genetic screening, which can restore reproductive confidence for subsequent pregnancies” says David, and sadly, there are currently no effective treatments for mitochondrial disease and most affected individuals have a poor prognosis.

However, a recent law reform has marked an historic moment and milestone for the Mito movement. The Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021 offers hope for families with certain forms of mitochondrial disease to have healthy children of their own through an IVF-based technique and mitochondrial donation.

However, this only offers hope for people affected by mitochondrial disease associated with mutations in mitochondrial DNA.

There are 350 nuclear genes associated with mitochondrial disease and research into understanding these individual diseases, what drives pathology, and how we can intervene therapeutically is essential

As we approach World Mitochondrial Disease Week we encourage you to learn more about the fundraising opportunities undertaken by the Mito Foundation, an Australian organisation that provides support to patients and families, and support for research into mitochondrial disease.

Learn more about the work of A/Prof Diana Stojanovski and A/Prof David Stroud and their laboratory research groups in the field of mitochondrial disease:

The Stojanovski Lab

The Stojanovski Lab is working as part of a global effort to understand the inner workings of one of the cells most intriguing and important organelles, the Mitochondrion. Their research aims to:

  1. understand the machineries and mechanisms that drive mitochondrial protein biogenesis in human cells;
  2. investigate the link between defects in mitochondrial protein biogenesis and human disease, and
  3. uncover how pathogens modulate mitochondrial function through the targeting of effector proteins to the organelle.

The Stojanovski Lab’s research team has been funded by the ARC, the Mito Foundation, The Citrin Foundation, Medical Research Future Fund (MRFF), and the National Health and Medical Research Council (NHMRC).

“We are molecular biologists and want to understand how mitochondria function in health and disease. Our research aims to decode the molecular mechanisms of distinct mitochondrial diseases and in this way, seek to develop personalised therapeutic strategies to alleviate the symptoms of mitochondrial dysfunction in specific disease states”, Diana says of her work.

Learn more The Stojanovski Lab

Learn more Mitochondrial disease – insight from a cell biologist

The Stroud Lab

Research in the Stroud laboratory aims to raise the diagnostic rate for monogenic rare diseases, including mitochondrial disease, understand rare disease pathology, and ultimately improve human health through the application new mass- spectrometry based technologies to functional genomics. They work within three primary research themes:

  1. Mass-spectrometry based functional testing for monogenic rare disease.
  2. Developing gene-edited cell-based models to understand rare disease pathology.
  3. Understanding mitochondrial function through systems biology and multi-omics.

The Stroud Lab’s research team has been funded by the Mito Foundation, Medical Research Future Fund (MRFF), and the National Health and Medical Research Council (NHMRC).

David has an interest in the development and application of new technologies for the identification and functionlisation of genes implicated in rare monogenic diseases, with a focus on mitochondrial disease.

“Our aim is to acquire accreditations by the National Association of Testing Authorities (NATA) and Royal College of Pathologists of Australasia (RCPA) and deliver proteomics as a clinical test for mitochondrial and other rare genetic diseases” David says of his work.

Learn more The Stroud Lab

Learn more Researcher Spotlight: Associate Professor David Stroud