Navigation Links
Boffins Identify Gene That can Protect Humans from Nephronopthisis

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 genes 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.


'"/>




Related medicine news :

1. Fizzy Logic For A Perfect Drink: Courtesy Boffins
2. Boffins Identify Fifth Gene Behind Joubert Syndrome
3. Boffins Find Link Between Common Sleep Disorder and Hypertension
4. Boffins Identify Molecule That Might Treat Food Allergy
5. Boffins a Step Closer to Solving Puzzle of Lou Gehrigs Disease
6. Boffins Identify Gene That Helps Regulates Body Weight
7. Boffins Link Atkins Diet With Bowel Cancer
8. Boffins Develop New Technique to Hunt Illness-causing Mutants in Non-gene DNA
9. Boffins Find Evidence for Novel Brain Cell Communication
10. Indian Boffins to Fight Wrinkles With Camels Milk
11. Laboratory Testing Can Identify Risk of Pre-Term Labor and Delivery
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:12/6/2016)... ... December 06, 2016 , ... The V ... announce its Not a Moment to Lose fundraising campaign. As the V Foundation’s ... to declaring victory over cancer. The campaign aims to raise $200 million by ...
(Date:12/6/2016)... ... 2016 , ... GrekTek LLC, ( http://www.grektek.com ) an mHealth ... ) for the HealthyWatch, a new device to help patients manage their health ... while sharing these events with caregivers in real time. , “One ...
(Date:12/6/2016)... ... December 06, 2016 , ... ... the newly updated International Audit Protocol Consortium (IAPC) EHS audit protocol for ... to understand the scope of their EHS regulatory obligations and rapidly collect, share, ...
(Date:12/5/2016)... ... December 05, 2016 , ... What: Shriners Hospitals for Children, with the help ... patients – using a video monitor and web-enabled camera. Santa visits with children through ... into a Christmas Wonderland, which is where the video connection to the North Pole ...
(Date:12/5/2016)... , ... December 05, 2016 , ... ... it has been featured in SuperbCrew magazine, a leading online tech news platform ... This interview, now featured on SuperbCrew.com, explores the state of enterprise mobility security ...
Breaking Medicine News(10 mins):
(Date:12/5/2016)... Dec. 5, 2016  Sharn Anesthesia Inc. announced today ... and distribution partner for Salter Labs.  The company also ... in recognition of outstanding sales performance. Salter ... and anesthesia care, including the market gold standard ECO ... master distributor of the Parker Flex-Tip® Endotracheal Tube, which ...
(Date:12/5/2016)... , Dec. 5, 2016   BIOTRONIK today ... study. The study evaluates the safety and feasibility of ... an office setting. BioMonitor 2 is an ... that is placed underneath a patient,s skin to help ... (fainting). Atrial fibrillation is a leading cause of stroke ...
(Date:12/5/2016)... Calif. , Dec. 5, 2016 Sanovas, ... technology accelerator, announced today the launch of its wholly owned ... Logo - http://photos.prnewswire.com/prnh/20161202/445250LOGO   Logo - http://photos.prnewswire.com/prnh/20161202/445251LOGO ... ... There ...
Breaking Medicine Technology: