POLG Disease

POLG Disease Latest News

A 22-year-old young prince of Luxembourg, Prince Frederik, recently died from a rare genetic disease called POLG.

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.

POLG Disease 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.

POLG Disease 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.

POLG Disease Treatment

• There is currently no cure for POLG. 
• Available treatment for the POLG focuses on managing the symptoms and quality of life.

POLG Disease FAQs

Q1. What causes POLG disease?

Ans. It is caused by inherited mutations in the POLG gene.

Q2. What are the symptoms of a POLG carrier?

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Ans. The most frequent symptoms include muscle weakness, ophthalmoplegia (weakness or paralysis of the eye), epilepsy, and liver failure.

Q3. Is POLG disease curable?

Ans. There is currently no cure for POLG. 

Source: N18