Exciting new research by Baker Heart and Diabetes Institute researchers raises the possibility that we could reduce the severity of heart failure and other degenerative conditions in mitochondrial disease patients. By supplementing these individuals with a specific molecule identified in this new research, it could provide new therapeutic opportunities for treating a disease where there has previously been no treatments.
Mitochondrial disease is a debilitating genetic disorder that robs the body's cells of energy. Mitochondria are the health hubs of cells, providing the body with over 90% of the energy it needs to sustain life. Mitochondrial disease is a potentially fatal disease that reduces the ability of the mitochondria to produce this energy. When the mitochondria are not working properly, cells begin to die until eventually, organs fail.
Sadly, many people with mitochondrial disease don't survive past 20 or 30 years of age. The Baker Institute's research demonstrates that complications observed in some mitochondrial disease patients such as muscle weakness, heart failure and neurodegeneration, are driven by a pathway that relates to a specific type of cell stress.
Professor Brian Drew, lead author of the study, explains, "We now have insights into this specific cellular stress pathway, and have demonstrated that a particular molecule in the affected tissues is severely depleted, which is likely one of the precipitating pathologies that cause the disease. Accordingly, restoring levels of this molecule back to normal may be a novel therapy for this disease in some patients."
"There are a lot of nutraceuticals out there that might do this, but we are honing in on the exact compound so people with mitochondrial disease can experience better health for longer periods."
Baker Institute has created a model of the mitochondrial DNA Polymerase γ (PolG) mutation, which leads to rapid development of mitochondrial disease and its complications.
Sean Murray, CEO of the Mito Foundation says, "At least one child born every six days in Australia will develop a severe or life-threatening form of mitochondrial disease (mito). Mito Foundation recognises that research is vital to expand our understanding of mito, and drive improvements for those impacted by this insidious disease. We are excited to see leading Australian mitochondrial scientists collaborating on this impactful work."
Founders of the Mito Foundation, Margie and Doug Lingard, shared their family's devastating experience with mitochondrial disease which took the lives of two of their children.
"Thirty years ago, our seven year old son, Alex died from what was then an unknown illness. Many years later, our beautiful daughter, Rose (20) was found convulsing and unconscious.
We were told that Alex had most likely died from a mitochondrial disorder. Our hearts and hopes sank when we read that it was an incurable illness for which there was yet no cure.
Rose spent several weeks on life support and in a coma, then months learning to walk again. Rose's determination, for which she deserved a medal, and outstanding medical support, gave her part of her life back. Her greatest wish was to get through a day without convulsions, and be like her friends. It broke our hearts to see her struggling and trying so hard but it's also what has kept us motivated to find a cure for Rose and every other sufferer." Sadly, Rose passed away in 2017.
Now with the Baker Institute's research, there are renewed opportunities on the horizon for all those families impacted by mitochondrial disease.
