POLG Mitochondrial Disease

March 11, 2025

On March 1, 2025, Prince Frederik of Luxembourg passed away in Paris at the age of 22 after a long battle with POLG mitochondrial disease. His family announced the news later, denoting his struggle with this rare genetic disorder. Diagnosed at 14, Frederik became an advocate for research and founded The POLG Foundation in 2022. The foundation aims to raise awareness and funds for POLG disease, which causes progressive multi-organ dysfunction and failure.

What is POLG Mitochondrial Disease?

POLG mitochondrial disease is a genetic disorder caused by mutations in the POLG gene.
The POLG gene is crucial for mitochondrial DNA replication.
The disease impairs cellular energy production, leading to severe health issues.
Symptoms vary widely and can include muscle weakness, seizures, and liver dysfunction.
The disorder affects many organ systems, complicating diagnosis and treatment.

Symptoms and Diagnosis

Symptoms of POLG disease can range from mild to severe. Common symptoms include muscle weakness, visual impairment, and neurological decline. Diagnosis is often delayed due to the variability in symptoms. Many patients may not receive a correct diagnosis until the disease has progressed .

Challenges in Treatment

Treating POLG mitochondrial disease is complex due to its multi-systemic effects. Each patient may experience different symptoms based on the specific mutation of the POLG gene. Currently, there is no cure or effective treatment to reverse the disease. Management focuses on alleviating symptoms and improving quality of life.

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