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POLG Disease

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March 17, 2025

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.

References

  1. The Hindu | POLG Disease
  2. News 18 | What is POLG?
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