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:5/5/2016)... ... 2016 , ... Spring Fertility , the only fertility ... egg freezing, today announced the grand opening of its first location in San ... Fertility offers both fertility preservation (egg, sperm, embryo, and testicular and ovarian tissue ...
(Date:5/5/2016)... ... May 05, 2016 , ... ... Wharton Seminars for Business Journalists , led by the Wharton School’s ... and economic issues.  This one-day program at the Wharton School’s San Francisco ...
(Date:5/5/2016)... ... May 05, 2016 , ... United Benefit Advisors (UBA), ... as the latest addition to its family of Partner Firms. Headquartered in Mount ... wellness, human resources, and health care consumerism specialists. , “Partnering with UBA will ...
(Date:5/5/2016)... ... May 05, 2016 , ... ... Make-A-Wish grants the most heartfelt wishes of these children. The wishes provide ... treatment. President and CEO of Make-A-Wish Mississippi, Brent Wilson said, “In 2016, ...
(Date:5/5/2016)... ... May 05, 2016 , ... Michael Lanteri Agency ... created to assist the people of their local community. The agency pledges to ... community leaders. Their hope is to bring awareness to important local causes with ...
Breaking Medicine News(10 mins):
(Date:5/4/2016)... Research and Markets has ... Ischemic Stroke Market and Competitive Landscape Highlights ...      (Logo: http://photos.prnewswire.com/prnh/20160330/349511LOGO ) ... Market and Competitive Landscape Highlights 2016, provides ... products, Acute Ischemic Stroke epidemiology, Acute Ischemic ...
(Date:5/4/2016)... , May 4, 2016 ... addition of the  "Global Actinic Keratosis Market ... to their offering.       (Logo: ... Keratosis Market and Competitive Landscape Highlights 2016, ... products, Actinic Keratosis epidemiology, Actinic Keratosis market ...
(Date:5/3/2016)... 4, 2016 Global Insulin ... profiling 09 key companies and supported with 272 ... in-depth study on the current state of the ... the industry including definitions, classifications, applications and industry ... provided for the international market including development history, ...
Breaking Medicine Technology: