CECAD

Light up for mito: Global Mitochondrial Disease Awareness Week

20.09.2018

Mitochondria are the major sites of energy generation within the cell; hence they are often described as the cellular “powerhouses”. Without mitochondria, higher animals would likely not exist because their cells would not be able to produce enough energy. In fact, mitochondria enable cells to produce 15 times more energy than they could otherwise. The last twenty years of research have revealed many other fundamental roles for this organelle, positioning them in the center of the overall metabolic network of cells. Mitochondrial energy metabolism is a foundation for health and wellbeing and even subtle insufficiency in mitochondrial function can cause weakness, fatigue and cognitive difficulties.

Mutations in mitochondrial genes cause mitochondrial diseases that are one of the most common inborn errors of metabolism with a frequency of about 1 in 5000. They are very heterogeneous from a clinical, genetical, biochemical and molecular point of view and can affect patients of any age. They are usually multisystemic, with the brain and muscle being the most commonly affected tissues; hence they are often called “mitochondrial encephalomyopathies”. The first patient suffering from a mitochondrial disorder was described by Rolf Luft and colleagues in 1962. Since then thousands of patients have been diagnosed with different kinds of mitochondrial diseases. Every 30 minutes, a child is born who will develop a mitochondrial disease by the age of 10. While the exact numbers of children and adults suffering from mitochondrial disease are hard to determine because of frequent misdiagnosing, we now know that the prevalence of mitochondrial diseases is approaching that of childhood cancers. Currently, there are no treatments known to modify the underlying mitochondrial disease process.

Not surprisingly, dysfunction of mitochondrial OXPHOS system has emerged as a key factor in a myriad of “common” diseases, including neurodegenerative and metabolic disorders like Parkinson’s and Alzheimer’s Disease, Type 2 Diabetes, and was linked to aging process. Despite all this, it is surprising that our understanding of the mechanisms governing the mitochondrial pathologies remain superficial and therapeutic interventions unexplored. Studies in this area are not only of basic scientific interest but may also provide new avenues towards treatment of mitochondrial dysfunction in a variety of human diseases.

On the evening of September 20th, CECAD will take part in the global event "Light up for Mito", where buildings around the globe will be lit up in green.