Prince Frederik of Luxembourg, the youngest son of Prince Robert of Luxembourg and Princess Julie of Nassau, passed away at the age of 22 on March 1 from POLG mitochondrial disease, a rare and devastating genetic disorder.
The news was posted by Prince Robert, the first cousin of Grand Duke Henri of Luxembourg, on the website of the POLG Foundation, an organization Frederik founded to raise awareness and find a cure for the disease.
“It is with a very heavy heart that my wife and I would like to inform you of the passing of our son,” Robert, 56, wrote.
Frederik, who dedicated his life to raising awareness and funding research for the condition, spent his final moments surrounded by loved ones. A day before his death on February 28, he called all his family members to his room for a heart-to-heart chat. Robert noted that his son wrapped up the conversation with “one last long-standing family joke" that cheered up everyone. “Frederik fought his disease valiantly until the very end. His indomitable lust for life propelled him through the hardest of physical and mental challenges," his father said.
His passing has sparked renewed interest in POLG mitochondrial disease, a condition that affects the body's ability to produce energy at the cellular level. Here's what to know about the illness and the young prince's courageous battle.
What is POLG mitochondrial disease?
POLG disease is a rare genetic mitochondrial disorder that deprives the body's cells of energy, leading to progressive organ dysfunction and failure, according to the POLG foundation. It occurs in 1 out of 10,000 people. The disease leaves a person with very less energy which significantly affects quality of life. It affects multiple organ systems - primarily the brain, nerves, muscles, and liver, and presents with a wide range of symptoms, and is particularly challenging to diagnose and treat.
Mitochondria are the power plants of the cell, converting the food we eat into the kind of energy our bodies need to function. Mitochondria have their own DNA, which relies on an enzyme called polymerase γ (“POLG”)—encoded by the POLG and POLG2 genes in the host cell for replication. Mutations in these genes disrupt mitochondrial DNA replication, leading to symptoms that can emerge at any age, from early childhood to adulthood.
Early-onset POLG disease is the most severe and difficult to manage, often carrying the worst prognosis. Adult-onset cases have a somewhat better outlook, while late-onset disease generally offers the most favourable prognosis.
The symptoms vary in severity and often include ophthalmoplegia, muscle weakness, epilepsy, and liver failure.
Treatment
There is no cure for PolG disease yet. The current treatment for the disease focuses on symptom management and increasing quality of life. Epilepsy is one of the complications of the disease and the use of valproate - a common anticonvulsant medication - may result in irreversible liver failure.
Causes
POLG disease is caused by inherited mutations in the POLG gene, with more than 200 known disease-causing variants. These mutations impair the enzyme responsible for maintaining mitochondrial DNA, leading to reduced mitochondrial DNA levels in cells and/or the accumulation of mutations within it.
Symptoms of PoLG disease
Symptoms of the disease vary depending on when it emerges. Here is the list of symptoms ranging from early onset to late, as per Journal of Inherited Metabolic Disease.
For individuals with disease onset prior to age 12, the main symptoms are:
Seizures
Cognitive regression
Motor impairment
Cortical visual loss
Feeding difficulties
Liver dysfunction
People with disease onset between age 12 and 40 show the following symptoms:
Seizures
Impaired coordination (ataxia)
Peripheral neuropathy
Disease onset after age 40 can manifest in the following symptoms:
Drooping eyelids (ptosis)
Paralysis of the muscles that control eye movement
Impaired coordination (ataxia)
Myopathy
Parkinsonism
PolG disease can impact almost any organ and the symptoms may include poor muscle tone, developmental delay, movement disorder, weakness of the limbs, depression, anxiety, headache, hearing loss, vision loss, slurred speech (dysarthria), respiratory failure, and sleep apnea.
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