The Prince Frederik of Luxembourg has passed away after a long battle with the mitochondrial disease POLG, a fact that has brought attention to this rare genetic disorder. At just over 20 years old, the young prince left a legacy of awareness and hope through the POLG Foundation.
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But, what exactly is the POLG mitochondrial disease and why is it so difficult to diagnose? It is a hereditary disorder caused by mutations in the POLG gene, which encodes an enzyme essential for mitochondrial DNA replication. In the case of Prince Federico, the disease manifested at the age of 14, when he received his diagnosis.
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Everything you need to know about POLG, the disease that killed the Prince of Luxembourg
Mitochondria, often described as the “powerhouses” of cells, are responsible for producing the energy that the body needs to function. When the POLG gene fails, mitochondria stop generating enough energy, leading to dysfunction and progressive deterioration of multiple organs.
According to the POLG Foundation itself, the symptoms of this disease can vary widely and affect different systems of the body, making it difficult to diagnose. Some patients experience seizures, muscle weakness, extreme fatigue, neurological problems, and organ failure such as in the liver and heart.
As is the case with most rare diseases, the mitochondrial disease POLG has no cure or effective treatment that can slow its progression. As Prince Robert of Luxembourg, father of Frederick, mentioned, “these diseases are often difficult to recognize even for doctors, and the families of patients may never know what they suffer from.”
Prince Federico’s tireless work against POLG mitochondrial disease
Aware of the importance of raising awareness about these diseases, Prince Federico dedicated his last years to generating awareness about POLG and other rare mitochondrial diseases. He participated in clinical trials in the hope of finding treatments and sought ways to repurpose existing molecules to alleviate patients' symptoms.
Its POLG Foundation continues with this mission, promoting research and the development of therapies that could one day change the fate of those suffering from this disorder. “I am glad to be the one born with this disease. Even if I die from it and even if my parents don’t have time to save me, I know they can save other children,” said the young prince, accepting his illness.