POLG disease: Rare genetic disorders that starve the cells of energy, and affected late Prince of Luxembourg (19459000)
Name of the disease: POLG diseases are also known as diseases related to polymerase gamma.
Populations affected: POLGs are rare and incurable diseases caused by gene mutations. Up to 2% people with Northern European descent carry these disease-causing gene mutations. Not everyone with the mutations will develop a POLG disorder.
According to estimates, approximately one in ten thousand people suffer from these diseases worldwide.
Causes: The POLG gene contains several hundred mutations that can cause diseases. The POLG gene is responsible for a mitochondrial protein called DNA Polymerase Gamma (pol.g), required to duplicate and repair unique DNA only found in mitochondria.
POLG is a disease that can be caused by inherited mutations in the POLG gene.
Mitochondria, the cellular powerhouses that break down carbohydrates and fatty acid in food into molecules known as ATP which are then used by the body for energy.
Related: Early study suggests that Crohn’s may be caused by mitochondrial dysfunction
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People with POLG can suffer from polymerase-gamma issues that either decrease the DNA content in their mitochondrial DNA or introduce mutations. In some cases, these two events may occur.
Cells can become depleted of energy, leading to organ failure and dysfunction.
Around 300 POLG mutations have been identified as causing disease. Examples of POLG-related diseases include Alpers-Huttenlocher syndrome, ataxia neuropathy spectrum and childhood myocerebrohepatopathy spectrum.
Electrical instability of the brain is a common cause of epileptic seizures in patients with POLG. (Image credit: koto_feja via Getty Images)
Symptoms: POLGs can sometimes be difficult to diagnose because of their wide range of symptoms. The symptoms may also appear at various times throughout a person’s life, ranging from childhood through adulthood, depending on the disease.
It’s important to note that the timing of the symptoms can vary depending on whether the condition is primarily caused by DNA loss or mutations.
The symptoms manifest in parts of the human body which require lots of energy, like the liver, central nervous system, and muscles.
POLG is characterized by progressive weakness in eye muscles, upper arm muscles, and shoulder muscles. These diseases can also cause droopy eyes, epilepsy, and liver disease.
Alpers-Huttenlocher Syndrome is a severe form of POLG. This condition is characterized by seizures, reduced mobility, and liver problems.
Ataxia Neuropathy Spectrum is characterized by reduced nerve functions, coordination, and balance problems.
Treatments: POLG is not curable. Current treatments focus instead on treating the symptoms of patients. Doctors can, for example, prescribe medications to manage seizure or movement problems. Patients with liver failure can also undergo transplantation.
As a rule, people with POLG symptoms live between 3 months to 12 years following the onset of their first symptoms.
Latest casesPrince Frederik, second cousin to the heir, died in March 2025 from a disease related to POLG at age 22. Frederik founded and was creative director for The POLG Foundation. This organization supports research on treatments of POLG related diseases.
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The information contained in this article is intended solely for educational purposes and does not constitute medical advice.
