POLG DISEASE

Article Title: POLG DISEASE

14-03-2025

General Science Current Affairs Analysis

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.

People with POLG “likely end up bedridden and unable to function in so many of those activities of daily living.

Causes

oThe 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.

oMitochondria contain their own DNA, which requires a specific enzyme to replicate, found in the host cell’s POLG and POLG2 genes.

oMutations in these genes therefore impact the ability for mitochondria to replicate.

Symptoms

omild to severe, starting from early childhood to adulthood.

ofrequent symptoms include muscle weakness, ophthalmoplegia (weakness or paralysis of the eye), epilepsy, and liver failure.

oPOLG also affects neurological function and impacts a person’s ability to balance, talk, and walk, and it causes seizures and more.

Treatment

ocurrently no cure for POLG.

oAvailable treatment for the POLG focuses on managing the symptoms and quality of life.

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