POLG (Polymerase Gamma) mitochondrial disease

On March 1, 2025, Prince Frederik of Luxembourg passed away in Paris at the age of 22 after a long battle with POLG (Polymerase Gamma) mitochondrial disease.

About Disease

• Genetic Disorder: Caused by mutations in the POLG (Polymerase Gamma) gene, essential for mitochondrial DNA (mtDNA) replication.
• Impact on Cells: Leads to impaired energy production, affecting multiple organ systems.
• Progressive & Fatal: Results in multi-organ dysfunction and failure over time.
• Symptoms & Diagnosis: Symptoms vary but commonly include:

1. Muscle weakness & seizures
2. Visual impairment
3. Neurological decline
4. Liver dysfunction

• Diagnosis is often delayed due to wide-ranging symptoms and complexity in identifying the disease.

Challenges in Treatment

• No Cure Available: POLG disease has no definitive cure or reversal therapy.
• Symptom Management: Treatment focuses on alleviating symptoms and improving quality of life.
• Multi-Systemic Complexity: Each patient experiences different effects based on specific gene mutations.