ANU scientists have discovered an unusually high gene mutation rate behind kidney disease in the Tiwi Islands of the Northern Territory

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

But one day his life changed completely.

“When I took a rest from Smoko and went to the bathroom, I noticed that I was bleeding,” he said.

“I thought I was dreaming”

Just two days after the medical examination, Henry received catastrophic news from the doctor – his kidneys were shutting down quickly.

Doctors said it would take six years for him to start experiencing kidney failure — it happened in less than two years when the kidneys lost the ability to work to get rid of waste products.

“Doctors were surprised at how quickly it happened,” he said.

“It changed my life dramatically … The tensions in health problems kept my family away.

“It is very difficult to deal with life-changing health problems while experiencing farewells and trying to maintain a relationship with your child.

Today, Mr Henry can no longer swim in the sea, walking becomes difficult and difficult, and hunting and fishing are a thing of the past.

And he is not alone.

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

For decades, researchers have been confused by the spread of the disease on the island, but now scientific advances give us a glimpse of why.

Researchers at the Australian National University have discovered a mutation in the VANGL1 gene. This protects the kidneys from illness when functioning normally.

Otherwise, the kidneys lose the ability to resist attacks.

Dr. Simon Jean, a senior researcher, says that about 15 percent of the general population is born of mutations.

But in the Tiwi Islands, the percentage is almost 50 percent due to an unusual sequence of events that dates back thousands of years.

“When people first emigrated to the Tiwi Islands, years or years ago, 10 or 15 percent of them could have had the mutation,” said Dr. Jiang.

“And because it was more difficult to get to the mainland, they became a kind of landlocked country on the two islands, and the mutation was allowed to propagate.”

Dr. Jiang said that for much of history, the general health of the Tiwi Islands was so good due to its geographical isolation that the mutation did not cause any problems.

However, recent changes in eating habits and lifestyle have made it a big problem.

“If someone is fine, the gene probably won’t cause too many illnesses or problems,” said Dr. Jiang.

“But if something changes in the environment, genes can suddenly have more ominous consequences.

“One of the really impressive things is that many older people have very good kidney health, but it is the younger generation that begins to see a significant increase in the incidence of kidney disease.”

Dr. Jiang, who regularly visited the Tiwi Islands for his research before COVID, said the burden of illness on the island was “faced.”

Call for a change to dialysis treatment in the Tiwi Islands

Henry says he’s waiting for a new kidney and it’s hard to see friends and family around him die while waiting for a transplant.

He doesn’t know if he has a gene mutation, but if he does, it may make transplantation more difficult.

He wants big changes in the islands.

“Currently, there are many younger people in the Tiwi Islands who are suffering from renal failure than I am,” he said.

“It’s really bad because of lack of education, and people just die because they don’t get treatment.”

The Tiwi Islands kidney ward has only five dialysis chairs monitored by fly-in fly-out staff, forcing remote patients to travel hundreds of kilometers to urban areas for treatment.

Henry said that wasn’t enough.

“Going home for indigenous peoples in their home culture, it’s a medicine in itself,” he said.

“But everyone was rounded up and placed elsewhere.

He also said he wants health professionals to visit the community to provide education to the younger generation.

“They need a wake-up call … some of them are on the verge of this illness,” he said.