POLG Disease

Why in the News?

The son of Prince Robert of Luxembourg and Princess Julie of Nassau, Prince Frederik recently died from POLG disease.

POLG disease is a genetic disorder that depletes the body’s cells of energy.
This in turn causes progressive multiple organ dysfunction and failure.
It is a rare, incurable condition caused by inherited gene mutations.
Cause - The condition affects mitochondria, the “powerhouse” of the cell which converts food into ATP, the primary energy our body uses to function.
Mitochondria contain their own DNA which requires a specific enzyme to replicate, found in host cell’s POLG and POLG2 genes.
Mutations in these genes therefore impact the ability of mitochondria to replicate.
Symptoms - Can start from early childhood to adulthood and can be mild to severe.
The most frequent symptoms include muscle weakness, ophthalmoplegia (weakness of paralysis of the eye), epilepsy and liver failure.
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 daily activities.
Diagnosis -It can be very difficult to diagnose because it affects a wide variety of organs and has many symptoms.
Treatment - There is currently no treatment or cure for POLG.
Prevalence – It affects 1 in 5,000 people.