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24th November 2018

Scientists identify genes linked to kidney disease

35 genes that predispose people to chronic kidney disease (CKD) have been discovered by an international team of scientists, led by the University of Manchester in England.

This breakthrough is a major advance in the understanding of a significantly under-diagnosed disorder which, if left undetected, can lead to failing kidneys that need dialysis or kidney transplantation. It could lead to the future development of new diagnostic tests and treatments for the disease, which affects nearly 10% of the global population. The team, based in Poland, Australia and the UK, published their study this week in Nature Communications.

"Chronic kidney disease is known for its strong genetic component," said the lead researcher, Professor Maciej Tomaszewski, a specialist in cardiovascular, endocrine and metabolic sciences from the University of Manchester. "The limited knowledge of its exact genetic mechanisms partly explains why progress in the development of new diagnostic tests and treatments of chronic kidney disease has been so slow.

"Our findings were made possible by using a state-of-the art technology – next-generation RNA sequencing – applied to one of the largest ever collections of human kidneys. We hope that some of the kidney genes we discovered may become attractive targets for the development of future diagnostics and treatment for patients with chronic kidney disease."


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"One of the genes – mucin-1 – is especially interesting," said co-author Professor Adrian Woolf, also from Manchester. "It makes a sticky protein called mucin that coats urinary tubes inside the kidney. Mutations of this gene have already been found in rare families with inherited kidney failure."

"We hope that early prediction by genetic testing even before the development of symptoms will, in the future, be the first line of defence against one of the world's top killers," said Professor Fadi Charchar from Federation University, Australia. "Early detection followed by treatment using kidney-protective medication or avoidance of drugs which can damage the kidneys is the key to healthier kidneys later in life."

"Nearly two million people in the United Kingdom have been diagnosed with moderate-severe CKD by their GP but it is estimated that a further one million people remain undiagnosed," said Elaine Davies, director of research operations at Kidney Research UK. "We refer to CKD as a silent killer, because it is common for it to have little or no symptoms until the consequences of the disease have taken hold. The findings of this research are hugely important as they bring us a step closer to being able to understand, diagnose earlier and prevent kidney disease."



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