The killer disease that claimed a royal prince and how Australians are helping find answers

This cruel disease claimed the life of a much-loved royal prince. Now, Australians are helping find answers.

Australian researchers are providing new hope for a cruel killer disease with royal connections.

Called mitochondrial disease, it affects as many as one in 2000 Australians and is deadly when it robs the body’s cells of energy leading to organ failure.

Mitochondria are the health hubs of cells, providing the body with over 90 per cent of the energy it needs to sustain life.

Prince Robert of Luxembourg says when they go awry it is like a faulty battery that eventually loses power.

His son Prince Frederik, 22, lost his battle in February with a common genetic form of mitochondrial disease caused by mutations in the POLG gene. This typically affects the organs and brain structures.

Now, in a paper published in the journal Nature Communications, Baker Heart and Diabetes Institute researchers have identified a specific folate molecule in a new model of POLG mitochondrial disease that may offer some answers.

Research assistant Christine Yang, lead author Professor Brian Drew and first author Dr Simon Bond. Image: Baker Institute

They believe it can be developed into a supplement to reduce the severity of the disease in as many as a quarter of cases.

“It is not a cure at this point,” lead author Professor Brian Drew. “It would be more of an aid to improve health over the long term.”

His team is in discussions with the POLG Foundation established by Prince Frederik and his family, and also the Australian Mito Foundation about advancing this work.

The Mito Foundation was set up by Margie and Doug Lingard who lost two children, Alex and Rose, to the disease.

Professor Drew says the team’s research gives insights about why this particular molecule is severely depleted and likely one of the causes of the disease.

“Restoring levels of this molecule back to normal may be a novel therapy,” he said.

“We believe that in about 25 per cent of patients that have these mitochondrial diseases, it’s this particular pathway that seems to have a block.”

Prince Robert and Princess Julie described their son Frederik as a “superhero” who set up a POLG Foundation to help fund mitochondrial disease research globally.

On its website Prince Robert said his son was born with the disease, but diagnosed at the age of 14 when his symptoms were showing more clearly and the progression had become more acute.

The late Prince Frederik of Luxembourg with his beloved dog Mushu.

“Because POLG disease causes such a wide range of symptoms and affects so many different organ systems, it is very difficult to diagnose and has no treatments much less a cure,” Prince Robert said.

“One might compare it to having a faulty battery that never fully recharges, is in a constant state of depletion and eventually loses power.”

Professor Drew said the goal of the research was to improve quality of life.

“Some people are unable to walk well, they’re wheelchair-bound. So this might just give them that little bit of extra energy where they can actually stay mobile for longer.”

He said the disease also caused many complications related to heart failure, muscle weakness and neurodegeneration.

“We don’t really understand why one patient has neurodegeneration and another might have a very similar condition or mutation in their DNA, but they get heart failure.

“There’s still a lot of information we don’t know about the disease, but our research suggests that this is one of the fundamental pathways that goes wrong, and if we can intervene early, then we can have some sort of benefit later on.”

What is mitochondrial disease?

A genetic disorder that robs the body’s cells of energy. It can be fatal because it reduces the ability of the mitochondria to produce this energy.

When the mitochondria are not working properly, cells begin to die until eventually, organs fail

Who is affected?

In Australia, as many as one in 2000 people develop severe mitochondrial disease during their lifetime

One child every week is born with a severe form of the disease

Some people can live with the disease, but affected children may not survive beyond their teenage years

What is POLG disease?

This is one of the most common inherited mitochondrial disease and is caused by mutations in the POLG gene. This form typically affects the organs and brain structures. There is no cure.