ANU Scientists Find Unusually High Rate of Genetic Mutations Causing Kidney Disease on NT’s Tiwi Islands

A year and a half ago, Dennis Henry was an active and energetic 35-year-old father from the Tiwi Islands.

But in one day, her whole life changed.

“We had our smoke break and I went to the bathroom and noticed I was peeing blood,” he said.

“I thought I was dreaming.”

Just two days after a test, Henry received devastating news from his doctor that his kidneys were failing quickly.

Doctors said it would take six years before he began to suffer from kidney failure – when the kidneys lose their ability to do their job of removing waste, but it happened in less than two.

“The doctors were amazed at how quickly this happened,” he said.

“It has radically changed my life… the stress of the health problem has driven my family away.

“It is very difficult to face a life changing health problem and go through a breakup at the same time and try to maintain a relationship with your children.

Today Mr. Henry can no longer swim in the ocean, walking has become laborious and difficult, and hunting and fishing are a thing of the past.

And he is not alone.

Despite being just 80 kilometers from the Darwin coast, the Tiwi Islands have the highest rate of reported kidney disease in the world.

For decades, researchers have been baffled by the prevalence of the disease on the islands, but now a scientific breakthrough is giving little insight into why.

Researchers at the Australian National University have discovered a mutation in the VANGL1 gene, which, when functioning normally, protects the kidney against disease.

When it doesn’t, the kidney loses its ability to resist an attack.

Lead researcher Dr Simon Jiang claims that around 15% of the general population is born with the mutation.

But on the Tiwi Islands, due to an unusual sequence of events stretching back thousands of years, the rate is nearly 50%.

“Potentially, when people first migrated to the Tiwi Islands years and years ago, 10 or 15% of them had the mutation,” said Dr Jiang.

“And because it was more difficult to get to the mainland, they kind of became landlocked in both islands and the mutation was allowed to spread.”

Dr Jiang said that for most of history, the mutation had not been a problem because general health on the Tiwi Islands had been very good due to its geographic isolation.

But a recent change in diet and lifestyle had made it a major problem.

“If someone is okay, the gene probably isn’t causing too much disease or too much trouble,” said Dr. Jiang.

“But if something changes in the environment, then suddenly the gene can have a more sinister consequence.

“One really striking thing is that a lot of seniors have fairly good kidney health, but it’s the younger generation where kidney disease rates start to rise quite significantly.”

Visiting the Tiwi Islands regularly for his pre-COVID research, Dr Jiang said the burden of the disease on the island was “facing”.

Calls for changes in Tiwi Islands dialysis treatment

Mr Henry is expecting a new kidney and says it has been difficult to watch his friends and family die while waiting for a transplant.

He doesn’t know if he has the genetic mutation, but if he does, it could make a transplant more difficult.

He wants big changes on the islands.

“There are a lot of people younger than me from the Tiwi Islands who are suffering from kidney failure right now,” he said.

“It’s really bad because there is a lack of education, and people are dying just because they don’t get treatment.”

There are only five dialysis chairs at the Tiwi Islands Kidney Unit, watched over by flying personnel, and remote patients are often forced to travel hundreds of kilometers to urban centers for treatment.

Mr. Henry said that was not enough.

“Being back home for an indigenous person among their culture in their country of origin is medicine in itself,” he said.

“But everyone is gathered and placed in another area.

He said he would also like health specialists to visit the community to provide education for the younger generation.

“They need a wake-up call… for some of them this disease is imminent,” he said.