Scientists hail 'revolutionary' kidney gene find

Chronic kidney disease causes the organs to function less effectivel

The identification of 20 genes which could help explain the causes of kidney disease could one day "revolutionise" treatment, researchers say.

Chronic kidney disease affects about one in 10 adults and can require dialysis or even an organ transplant.

The genes identified by the international team of researchers control kidney functions such as filtering waste from the blood.

Experts said the Nature Genetics study was "a great breakthrough".

Chronic kidney disease (CKD) is a long-term condition in which the kidneys progressively lose their function.

These are still early days but it is truly a great breakthrough Charles Kernahan, Kidney Research UK

People tend not to notice symptoms, which can include swollen ankles and hands or blood in the urine, until the condition is advanced.

It is linked to ageing - about one in five men and one in four women aged between 65 and 74 will have some degree of CKD.

The most common cause of CKD is damage caused by other long-term conditions, such as diabetes and high blood pressure.

It was known there was a genetic component to the disease, but not which genes were involved.

'First step'

In this study, an international team of scientists, including researchers at the University of Edinburgh, looked at the genes of nearly 70,000 people across Europe.

They found 13 new genes that influence renal function and seven others that affect the production and secretion of creatinine - a chemical waste molecule that is generated from muscle metabolism and filtered through the kidneys.

Dr Jim Wilson, a geneticist at the University of Edinburgh who worked on the study, said: "This work could revolutionise the treatment of kidney disease in the future - but this will take some time.

"It's a very critical first step towards a completely new understanding of the biology behind CKD. Transferring what we've found into clinical benefits will take some years."

Charles Kernahan, chief executive of the charity Kidney Research UK, said "These are still early days but it is truly a great breakthrough.

"No-one knows who will be affected or when kidney disease may strike next, so even more research needs to be funded to help us tackle this challenge."

(Source: BBC Science and Technology)

Autosomal dominant vs Autosomal recessive

Autosomal dominant

Main article: Autosomal dominant#Autosomal dominant gene

Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. There is a 50% chance that a child will inherit the mutated gene. Conditions that are autosomal dominant often have low penetrance, which means that although only one mutated copy is needed, a relatively small proportion of those who inherit that mutation go on to develop the disease. Examples of this type of disorder are Huntington's disease, Neurofibromatosis 1, Marfan Syndrome, Hereditary nonpolyposis colorectal cancer, and Hereditary multiple exostoses, which is a highly penetrant autosomal dominant disorder. Birth defects are also called congenital anomalies.

Autosomal recessive

Main article: Autosomal dominant#Autosomal recessive allele

Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. Examples of this type of disorder are cystic fibrosis, sickle-cell disease (also partial sickle-cell disease),Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy, and Dry (otherwise known as "rice-brand") earwax.

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