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  • Mutating kidney gene linked to disease

    Author: AAP

Australian scientists have found a gene in the human body that mutates in some people and accelerates kidney disease.

Kidney disease impacts 1.7 million Australians each year, according to Kidney Health Australia.

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The discovery is expected to help medical practitioners better understand the disease and manage it.

Australian National University researchers sequenced the genome of patients with autoimmune kidney disease and Indigenous Tiwi Islanders with extremely high rates of kidney disease.

They found the VANGL1 gene, which in most people stops the immune system from attacking the kidney.


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"The natural function of this gene is to slow that inflammatory process down," nephrologist Simon Jiang said.

But for about 15 per cent of the population, a mutation in the gene has the potential to cause kidney diseases.

"Patients with this mutation will be significantly more likely to develop kidney disease," Dr Jiang said.

"When you have a systemic immune or inflammatory disease, it allows the immune system to attack the kidney."

Tiwi Islanders have a much higher prevalence of the mutation, which affects about 50 per cent of the population.

The islands in the Northern Territory, 80km north of Darwin, also have the highest recorded rates of kidney disease in the world.

Their disease rates are four times the rates of mainland Indigenous Australians and about 11 times that of non-Indigenous Australians.

Kidney disease is usually a chronic disease in which a person's kidney function is reduced or damaged.

This affects the kidney's ability to filter blood and control the body's water and other hormone levels, leading to increased fluid and waste within the body.

An increase in these fluids can cause high blood pressure, anaemia and uremia.

The most common cause of chronic kidney disease in Australia is diabetes.

This is because high blood sugar levels damage the blood vessels in the kidneys, stopping them from filtering wastes properly.

About one in 10 Australian adults show some signs of chronic kidney disease.

Aboriginal and Torres Strait Islander people are twice as likely to have chronic kidney disease than non-Indigenous Australians.

The study was published in Cell Reports Medicine on Wednesday.


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