POLG Disease

About POLG Disease:

• It is a genetic mitochondrial disorder that prevents the body’s cells from producing adequate energy, which in turn can cause multiple organ dysfunctions and failures.
• The disease affects multiple organs of the body, primarily the brain, nerves, muscles, and liver.
• It could also affect a person’s vision due to the involvement of affected brain structures.
• People with POLG “likely end up bedridden and unable to function in so many of those activities of daily living.
• Causes:
  • The condition affects mitochondria, the “powerhouse" of the cell, which converts food into ATP (Adenosine triphosphate), the primary source of energy in living cells of a body.
  • Mitochondria contain their own DNA, which requires a specific enzyme to replicate, found in the host cell’s POLG and POLG2 genes.
  • Mutations in these genes therefore impact the ability for mitochondria to replicate.
• Symptoms:
  • A person can see symptoms, from mild to severe, starting from early childhood to adulthood.
  • The most frequent symptoms include muscle weakness, ophthalmoplegia (weakness or paralysis of the eye), epilepsy, and liver failure.
  • POLG also affects neurological function and impacts a person’s ability to balance, talk, and walk, and it causes seizures and more.
• Treatment:
  • There is currently no cure for POLG.
  • Available treatment for the POLG focuses on managing the symptoms and quality of life.