Andrew Laming (Bowman, Liberal Party, Shadow Parliamentary Secretary for Regional Health Services and Indigenous Health) Share this | Hansard source

I also support the member for Cook's motion on mitochondrial disease. It is appropriate to reinforce the strong feelings which those on both sides of this chamber have to finding the scientific breakthroughs that can lead to a better life people born with mitochondrial conditions. The best example of science at its frontier are these mitochondrial diseases. We are only just beginning to understand the causation, the mechanisms of the disease and, ultimately, to search for a cure. I guess what holds back the awareness of mitochondrial disease is the very fact that it expresses itself in so many different ways that even primary care providers and GPs have very rarely had the experience of caring for a patient.

Most people who have specialised in neurology, ophthalmology and similar areas will have worked with people who have a family member affected by mitochondrial disease. My background with Lebers hereditary optic neuropathy is one example where we are just starting to understand that the origins of this disease lie in the tiny mitochondria of every cell in the body. We have the figures that around 4,000 Americans and around 200 Australians every year are being diagnosed with the condition. One in 4,000 Americans and Australians by the age of 10 will have been diagnosed with the disease. The Australian Mitochondrial Disease Foundation is making a simple request of this place that everyone be more aware through an awareness week—16 to 22 September—of this disease and of the needs of the people who live with it, and is pushing very hard for a cure.

There really is no greater test of a health system than how we look after those who, through no fault of their own, are born with a condition like mitochondrial disease. It is so heterogeneous and so varied in its expression that it very rarely impacts an individual Australians with a picture of exactly what this condition looks like. Those living with this disease do not have the benefits of, say, some of the larger pathology groups like cancer and heart disease, the benefits of a really clear picture of what this condition entails. We are only now learning about the importance of mitochondria in disease functionality, the role of mtDNA, that small amount of DNA which, unlike the rest of nuclear material, has only a single maternal copy. That leads to a far more varied expression of disease than one would find in a traditionally genetic disease. Whether it is acquired or inherited, the basic situation with the 15 respiratory proteins that are coded by mitochondrial DNA is that firstly they are directly from the mother and, secondly, from that point as mitochondria replicate they are randomly assigned to these organelles. That means that any possible clinical phenotype can be witnessed by clinicians, and that is simply because it depends on which organ body these mitochondrial variations turn up in. This is called 'threshold expressivity'—the heteroplasmy that leads to mitochondria affecting one part of the body and not another. We know if it ends up in the cerebrum, or in the peripheral nerves in particular, that it can have the strongest of outcomes and the most limiting for life and for quality of life.

Research started a decade ago. There are connections between mitochondrial disease and diabetes, the diabetes and deafness syndrome being one example. Optic neuropathy, the loss of central vision, is another. It is experienced at an early age and in far more severe forms that we would commonly know. These are typically older forms of retinopathy experienced by large numbers of Australians.

As I said, this is a disease category that deserves recognition. We need to raise awareness among GPs and primary care providers. We need to make sure every Australian knows what people living with mitochondrial diseases go through and give all the support we can, not just for more scientific research but for the inevitable ethical debate that will follow. Already we see in the University of Newcastle research allowing infertile mums with mitochondrial diseases to have children through pronuclear transfer. So what level of genetic engineering is society prepared to brook in order for infertile people to have children for the first time? These are just examples of where healthy DNA is being taken out of the eggs of a woman and placed into a healthy egg to allow that process to occur.

Right now the UK is leading the way on this moral debate, whether we are talking about vitamin supplementation, pyruvate or antioxidants that are able to penetrate the cell wall, which are the three most common forms of treatment. But more importantly, as this society, this fellowship, would be arguing, we must create awareness among Australians and care providers and push hard through medical research for a cure.

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