Researchers in Australia have identified a gene that indicates the kidney has its own way of resisting damage. However, they have also identified a mutation of the gene that can in patients with, for example, diabetes, trigger the development of renal disease.
A gene called VANGL1 has been found to help stop the immune system from attacking the kidney. But Australian researchers say the genetic mutation, which is present in about 15% of the population worldwide, can cause renal disease in patients with diabetes and other autoimmune conditions.
The mutation is highly prevalent among indigenous people on the Tiwi Islands, 80 kilometers from the city of Darwin in the Northern Territory. According to the study, just less than 50% of the islands’ residents have the genetic mutation.
The islands’ recorded rates of kidney disease are four times those of mainland indigenous Australians and about 11 times that of non-Indigenous Australians, according to researchers.
Dr. Simon Jiang is from the John Curtin School of Medical Research at Australian National University. He says the mutation is mostly benign in healthy adults.
“If your body is not inflamed and you are otherwise healthy, it is probably not too much of an issue. It is when you have another condition that occurs on top of it. And so in the Tiwi Islands, rates of infection, of diabetes and probably some immune diseases, are a lot higher than the rest of Australia. And so, when you have that process happening within your body, what is initially a reasonably benign mutation suddenly takes on a new turn and becomes something that is really bad news for the kidney,” Jiang said.
The study could lead to better transplant screening that would identify potential donors who have the genetic mutation.
The study was published Wednesday in the journal Cell Reports Medicine.