Boffins identify gene that can protect humans from nephronopthisis

London -- Researchers from the European Molecular Biology Laboratory (EMBL) and the University of Michigan have identified a gene that can protect humans from nephronopthisis (NPHP), a serious kidney disease.

NPHP is a disease that causes kidney degeneration during childhood and kidney failure requiring organ transplantation. The insights might help design effectual and non-invasive therapies.

The team has discovered that mutations in the gene GLIS2 can lead to nephronopthisis (NPHP) in both humans and mice.

Mathias Treier and his group at EMBL have paved way to develop innovative treatment for the disease by working on a mouse model.

“Our mice show striking similarities with NPHP patients. Very early on in their lives their kidney cells start to die and the mice develop all the characteristic disease symptoms. It is the first time that a mouse model reveals increased cell death as the mechanism underpinning kidney degeneration in NPHP. The genetic cause is a mutation in a gene called GLIS2,” Nature Genetics quoted Mathias Treier, group leader at EMBL, as saying.

GLIS2 protects adult kidney against cell death by turning off genesdefine that trigger cell death, and that are necessary for the organ development.

A change in the GLIS2 function sets off harmful genes leading to large numbers of kidney cells’ death..

To see if GLIS2 has the same result on human, Friedhelm Hildebrandt and his team at the University of Michigan carried out a genetic screening of those having NPHP. They found that some patients carried mutations in the same GLIS2 gene as in the mouse model confirming that GLIS2 is a crucial player in NPHP also in humans.

“This is an excellent example of how combining basic research with clinical studies can help uncovering mechanisms of human disease,” said Henriette Uhlenhaut who carried out the research in Treier’s lab.

“The next step will be to translate the insights gained into new therapeutic approaches to develop alternatives to kidney transplantations. With GLIS2 we have already identified one promising candidate drug target and our mouse model will help us find many others,” he added.

The study is available in the current online issue of Nature Genetics. (ANI)