Polg mitochondrial disease

POLG mitochondrial disease is a rare genetic disorder caused by mutations in the POLG gene, which is responsible for producing a protein crucial for mitochondrial DNA replication and maintenance. Mitochondria, the energy-producing structures in cells, rely on their DNA to function properly. When POLG gene mutations occur, it leads to impaired mitochondrial function, causing a range of symptoms including muscle weakness, neurological problems, seizures, and liver dysfunction. The severity and onset of symptoms can vary, but the condition often affects multiple organ systems. As a progressive disorder, POLG mitochondrial disease has no cure, and treatment focuses on symptom management and supportive care.