The Community Need

With no current cure, research into mitochondrial disorders is vital, both in its basic scientific form and in medical trials to test proposed therapies.

Dysfunction of mitochondria within our cells has become recognised as a significant cause of disease only in the last few decades. The population of people known to be afflicted with mitochondrial disorders has grown steadily as the condition has become better understood & more accurately diagnosed. While these disorders were once thought to be rare, they are now known to involve a quite large proportion of our population, probably more than 100,000 Australians¹.

They were thought initially to affect children almost exclusively but have been found more recently to affect adults quite commonly. At present they are usually diagnosed late or not at all, are treated improperly, and often progress to an early death.

Investigating mitochondrial genetics, function and replication is important not only to curing severe mitochondrial diseases but also to understanding many other common diseases. There is strong evidence that impaired mitochondrial function is important in Parkinson disease, diabetes and diabetic complications. Disorders such Alzheimer’s, autism, cardiovascular disease & some forms of cancer have also been associated with mitochondrial dysfunction, as has the process of ageing.

Genetic variants that directly affect mitochondrial function are present in at least 1 in 10 people in the population, and some of these variants will turn out to be predictors of risk for these common conditions.

¹ Population prevalence of the MELAS A3243G mutation. Manwaring N, Jones MM, Wang JJ,
Rochtchina E, Howard C, Mitchell P, Sue CM. Mitochondrion, 2007 May;7(3):230-3)