“PolG disease has been described as really one of the most progressive forms of mitochondrial disease,” said Philip Yeske. “Leading to rapid decline in function, and then resulting in death.”
Prince Frederik of Luxembourg dies at 22
Prince Frederik of Luxembourg, the son of Prince Robert of Luxembourg and Princess Julie of Nassau, has passed away at the age of 22.
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Prince Frederik of Luxembourg died from a genetic disease called PolG, but experts hope his passing could bring more awareness to the rare condition that impacted his life.
Prince Frederik, 22, died from a mitochondrial disease known as PolG, his father, Prince Robert of Luxembourg, announced on the website of his son’s foundation, the POLG Foundation.
“Frederik knows that he is my Superhero, as he is to all of our family, and to so very many good friends and now in great part thanks to his POLG Foundation, to so very many people the world over,” Prince Robert said.
“My only hope is out of this tragic loss of life that we can really use it as a springboard for advancing the therapeutics that will address this huge unmet medical need in the mitochondrial disease space,” said Philip Yeske, the United Mitochondrial Disease Foundation’s (UMDF) Science and Alliance Officer. UMDF has worked with the POLG Foundation, which Prince Frederik created “with the singular goal of finding that cure.”
But what is PolG Disease and how common is it? Here’s everything people should know about what the royal family’s website calls one of the “cruelest” mitochondrial diseases.
More: Prince Frederik, son of Prince Robert of Luxembourg, dies of rare POLG disease at 22
What is PolG disease?
PolG disease is a genetic disease caused by mutations that occur in the POLG gene in the mitochondria of a person’s cell, according to the UMDF. It’s one of the most commonly inherited mitochondrial diseases.
“PolG disease has been described as really one of the most progressive forms of mitochondrial disease,” said Yeske. “Leading to rapid decline in function, and then resulting in death.”
PolG is one of many other rare disorders classified as mitochondrial diseases.
Over 400 mitochondrial diseases, including PolG, have been identified, according to Yeske.
How does PolG affect people?
The PolG gene, when it does not have a mutation, is responsible for replicating the mitochondrial genome, according to a 2022 study published by the National Library of Medicine.
The mitochondria is commonly known as the “powerhouse of the cell,” and it provides the energy the cells in a person’s body need to survive and function.
However, a gene mutation in the mitocondria’s DNA, like the one caused by PolG, can impact the mitochondria and keep it from performing as it normally would.
What part of the body is impacted by PolG?
The disease affects multiple organs of the body, primarily the following, according to the foundation:
The disease could also impact a person’s vision due to the involvement of affected brain structures.
PolG also affects neurological function and impacts people’s ability to balance, talk, and walk, and it causes seizures and more, according to Yeske.
People with PolG “likely end up bedridden and unable to function in so many of those activities of daily living that are important to all of us,” he said.
Who is affected by PolG disorders?
PolG is a genetic disorder inherited from both parents and can manifest itself in people from infancy to late adulthood, according to the study published by the library.
The disease is on a spectrum, according to Yeske, with Alpers-Huttenlocher syndrome being the most severe and usually manifesting during early childhood.
Childhood myocerebrohepatopathy spectrum, another PolG-related disorder, also appears during the first three years of a person’s life, according to the study.
People given a more general diagnosis of PolG are usually diagnosed in adolescence and adulthood, according to Yeske.
Detecting mitochondrial diseases
Multiple symptoms could manifest in a person with a mitochondrial disease, but genetic testing for a POLG mutation is needed to confirm the diagnosis, according to UMDF.
Brain scans using a CT scan or MRI can spot changes in the brain from PolG Disease, and EEGs can also be used in diagnosis.
The disease “manifests in a lot of different symptoms for our patients,” said Yeske.
Muscle weakness and exercise intolerance could be a result of a mitochondrial disease, and one’s kidneys, liver, or heart could be affected, according to Yeske. When multiple issues with different parts of the body start to arise, it could be a sign of a mitochondrial disease.
“So if you’re having problems with your eyes, and your heart, and your brain, that starts to point to something fundamental, like a mitochondrial problem,” said Yeske. “And not just a specific problem to an eye disorder or a heart disorder.”
Children with a mitochondrial disease may miss growth milestones, like speaking or walking by a certain age.
To view a list of other symptoms related to PolG, click here.
How is the disease treated?
The disease is also managed by treating the symptoms of PolG, but it cannot be cured.
So, patients might be given medication that treats seizures, pain medication, muscle relaxants, physical therapy and more, according to UMDF.
No cure, but early diagnosis helps
Prince Frederik is “very representative of so many in our community that just ran out of time” while waiting for a cure, said Yeske.
Patients and their loved ones can be overwhelmed by a PolG diagnosis, “because of what we have available to us today,” said Yeske.
But, despite the lack of therapies for the cure, Yeske, who also lost his first daughter when she was 1 year old to a mitochondrial disease, is still hopeful.
UMDF is “working as fast as possible to get those approved therapies that could improve [PolG patient’s] quality of life [and] hopefully extend life,” said Yeske. “These are all on the radar for what we’re trying to accomplish.”
Spreading awareness of mitochondrial diseases is important so people can receive treatment as soon as possible, according to Yeske. It can also lead to more studies and lead a way to a cure.
Receiving an early diagnosis helps in giving patients the care they need.
“Having a confirmed genetic diagnosis is the gateway to having access to therapies that are approved but also just getting better clinical care from their patient because the doctors now better understand and know that there’s a therapy available to them,” said Yeske.
