POLG disease, caused by mutations in the POLG gene essential for mitochondrial DNA replication, leads to energy deficiency and multi-organ dysfunction affecting brain, nerves, muscles, and liver. Inherited from both parents, its symptoms vary. Luxembourg’s Prince Frederik, diagnosed at 14, campaigned for awareness despite progressive disability, actively seeking improved treatment.
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A 22-year-old young prince of Luxembourg, Prince Frederik, died from a rare genetic disease called POLG.
The POLG gene provides instructions for making the alpha subunit of pol γ, a protein that acts as a DNA polymerase.
Pol γ is essential for duplicating and correcting mtDNA, which is located in the mitochondria, the "powerhouses" of cells, responsible for energy production.
When POLG mutations occur, mitochondria are unable to replicate, this results in energy shortage.
Mutations in the POLG gene can provoke a range of disorders, affecting multiple organs, especially the brain, nerves, muscles, and liver.
Inheritance
Both parents must carry a mutated POLG gene for their child to be affected.
Symptoms
Symptoms can vary widely depending on the specific mutation and the severity of the disorder.
Common symptoms include muscle weakness, ophthalmoplegia (eye muscle weakness), epilepsy, and liver failure.
Some individuals experience milder symptoms, such as progressive external ophthalmoplegia, while others have more severe.
Treatment
There is no cure for POLG disease. Treatment mainly focuses on managing symptoms.
Prince Frederik, diagnosed at age 14, became an advocate for POLG research after his diagnosis.
Despite facing progressive disability—including losing his ability to speak clearly near the end of his life—he remained actively involved in raising awareness and funds for research through the POLG Foundation he established.
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PRACTICE QUESTION Q. POLG disease affects which of the following cellular components? A) Nucleus B) Endoplasmic Reticulum C) Mitochondria D) Golgi Apparatus Answer: C Explanation: POLG disease affects mitochondria, which are referred to as the "powerhouse" of the cell. Impaired mitochondrial function is the central problem in POLG disease. |
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