The plight of UK baby Charlie Gard has brought visibility of mitochondrial disease to the world. While many are unfamiliar with the disease, no one can live without mitochondria—tiny cellular powerhouses, essential for energy creation in organ systems, like brain, heart and muscles. Charlie’s genetic mutation of mitochondrial deletion may be rare, but mitochondrial disease is not – approximately 1 in 2,500-5,000, adults, teens and children are affected, making mitochondrial disease more common than childhood cancers.
Mitochondrial dysfunction is proven to be at the root of many common diseases and conditions that affect young and old, from Autism to Parkinson’s, Alzheimer’s, some cancers, and it may even be responsible for aging itself. Almost everything related to human health can be traced back to the mitochondria. Research centered on the mitochondria has the potential to be the Holy Grail of medicine.
The recent events surrounding baby Charlie Gard intensify and justify the need for increased awareness and support of treatment-oriented research for the many aspects of mitochondrial disease. Due to the variable course of mitochondrial dysfunction and the fact that no two patients experience the same symptoms, treatments remain frustratingly basic, consisting mostly of supportive care that focuses on symptom management and the prevention of complications.
With mitochondrial dysfunction contributing to so many disparate diseases, collaboration across specialties, among clinicians, researchers and pharmaceutical companies, is vital. Non-profit organizations, such as ours, are forming partnerships to maximize our work. Treatments cannot come quickly enough to help Charlie and the many other adults and children across the globe struggling every day with mitochondrial disease. To learn more about mitochondrial dysfunction and disease, and the state of research and treatment, please visit UMDF, MitoAction, or Foundation for Mitochondrial Medicine.