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Disease name : Polymerase Vasco da Gamma - associate disease , called POLG - related disease for short
Affected population : POLG - related disease are a group of rare , incurable conditions due to inherited gene mutations . These disease - causing mutation are carriedby up to 2 % of peopleof Northern European descent . However , not everyone who carries the mutations at long last develops a POLG - tie in disorder .
POLG-related diseases are caused by mutations in a gene needed to maintain the DNA inside mitochondria, pictured above under a microscope.
Estimates suggest that these diseases affect approximately 1 in 10,000 citizenry worldwide .
Causes : POLG - related diseases are do by several hundred different mutations in thePOLG cistron . This factor encode a protein in mitochondria , calledDNA polymerase gamma(pol γ ) , which is involve to replicate and revivify the uniqueDNAfound only inside mitochondria , rather than in the cell nucleus .
People develop POLG - related diseases by inheriting eitherone or two copiesof the mutated POLG gene from one or both of their parent .
Patients with POLG-related diseases often experience epileptic seizures caused by electrical instability in the brain.
Mitochondria are the cellular powerhouse responsible for forbreaking down the carbohydrate and fatty acidsin food to develop corpuscle called ATP , which the body then uses as vim .
Related : Malfunctioning mitochondrion may drive Crohn ’s disease , early discipline hints
In people with POLG - touch disease , issue with polymerase Vasco da Gamma can either terminate up decreasing the amount of DNA in mitochondria or introduce variation into that DNA . And in some cases , both these effect can go on .
at long last , cellsbecome vigor - depleted , and this can lead to organ dysfunction and failure .
POLG mutations are themost rough-cut causeof inherited mitochondrial disorders , witharound 300 mutationsin POLG known to cause disease . case of POLG - touch on disease admit Alpers - Huttenlocher syndrome , ataxia neuropathy spectrum and childhood myocerebrohepatopathy spectrum .
Symptoms : POLG - associate disease can be tricky to diagnose , in part , because they can do an array of symptoms that diverge in rigor . These symptoms can also emerge at different times in a person ’s life , from former childhood to adulthood , depending on which disease they have .
Thetiming of symptoms partly variesdepending on the specific POLG mutation a individual carries and the number of copy , as well as theunderlying driverof their precondition — whether it ’s mostly related to the loss of DNA or accumulation of genetic mutation .
Once they manifest , the symptom mostly sham part of the body thatrequire a quite a little of energy , such as thecentral nervous system , sinew andliver .
uncouth symptom of POLG - have-to doe with disease include progressive helplessness of the eye muscles and the muscles that areclosest to the center of the body , such as those situate in the shoulder or upper arms . People with these diseases may also have drooping eyelids anddevelop epilepsy and liver failure .
Alpers - Huttenlocher syndrome is one of themost wicked forms of POLG - related disease . In improver to the antecedently listed symptoms , people with this condition also usually experience seizures , a cut ability to move and liver disease .
People with ataxia neuropathy spectrum , meanwhile experience outcome with coordination and balance , as well as cut back nerve function .
— The rarefied genic disorder that cause severe itchiness and liver failure
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— Norrie disease : The rarified transmissible disorder that makes people go blind and deaf
Treatments : There is no remedy for POLG - tie in disease ; current treatments rather focus on reducinga patient ’s symptoms . For instance , doctors can order drug to help make out seizures or motion difficulties . Transplantation is also an selection for patients who experience liver nonstarter .
People with a POLG - relate disease typically subsist forbetween three months and 12 yearsafter symptoms first set about .
Recent cases : In March 2025 , Prince Frederik of Luxembourg , who was second cousin of the heir to the can , reportedlydied of a POLG - pertain disease at the age of 22 . Frederik was thefounder and originative directorof The POLG Foundation , an formation that supports research into treatment for POLG - related diseases .
This clause is for informational purposes only and is not imply to propose aesculapian advice .
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