Navigation Links
Mutant gene causes severe kidney disease in infants

nal disease before age 5. But surprisingly, two children who received early treatment with steroids or cyclosporin A were still alive and healthy, with no symptoms of the disease.

Hildebrandt and his research team couldn't believe children with the most severe form of nephrotic syndrome had been cured of the disease. So they tracked down their physicians ?one in Israel and one in Turkey ?to confirm that the information was correct.

"These children were very fortunate," Hildebrandt says. "Their physicians told us they decided there was nothing to lose by trying a course of treatment. Based on this information, we now think that there may be a critical time window during which treatment can overcome the development defects caused by PLCE1's loss of function."

The discovery has important implications for pediatric nephrologists and pediatricians who treat infants with nephrotic syndrome, according to Hildebrandt.

"In very early-onset nephrotic syndrome, it's important to find out if the child has mutations in PLCE1," says Hildebrandt. "Some infants with PLCE1 mutations might be treated successfully with steroids. It's not a golden bullet, but there's a slim chance, if the treatment is given early.

"Unfortunately, mutations in other podocyte genes, like NPHS2 ?also referred to as podocin ?are more common," he adds. "Based on all our knowledge so far, there is no effective therapy when nephrotic syndrome develops as a result of podocin mutations."

In future research, Hildebrandt and colleagues will continue searching for the causes of nephrotic syndrome. Using zebrafish that lack working copies of plce1, they hope to identify drugs that could reverse the damage to podocytes and the glomerulus caused by the disease.

"Because PLCE1 is an enzyme, we have a much better chance of finding ways to modify its activity," Hildebrandt explains. "Using the zebrafish model, we can do high-throughput screening o
'"/>

Source:University of Michigan Health System


Page: 1 2 3 4

Related biology news :

1. Mutant mice show key autism traits
2. Mutant mouse provides insights into breast cancer
3. BRCA1 causes ovarian cancer through indirect, biochemical route
4. Researchers discover molecule that causes secondary stroke
5. NASA study finds snow melt causes large ocean plant blooms
6. Alarm pheromone causes aphids to sprout wings
7. One hit of crystal meth causes birth defects
8. University of Nevada, Reno research team discovers hormone that causes malaria mosquito to urinate
9. Gene discovery sheds light on causes of rare disease, cancer
10. Defect in gene causes neuralgic amyotrophy
11. Genomics researchers discover protein deficit that causes drug toxicity
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Mutant gene causes severe kidney disease infants

(Date:9/18/2014)... their entire lives nestling in the protective tentacles of ... they sometimes travel hundreds of kilometres across the open ... fish has been predicted, this is the first time ... populations has been observed. , Dr Steve Simpson, Senior ... University of Exeter, and colleagues from the Australian Research ...
(Date:9/17/2014)... UCLA atmospheric scientists were instrumental in the creation of ... tool to classify the fire threat potential of the ... a spark into an inferno. The index was introduced ... with UCLA and San Diego Gas and Electric. , ... to "extreme" that will be used to help fire ...
(Date:9/17/2014)... engineering professor and his doctoral student have designed a ... water collected from fog and dew., The device could ... deserts around the globe., Cheng Luo, professor in the ... candidate in the same College of Engineering department, published ... of ACS, (American Chemical Society) Applied Materials ...
Breaking Biology News(10 mins):Expedition finds Nemo can travel great distances to connect populations 2Expedition finds Nemo can travel great distances to connect populations 3UCLA scientists play key role in developing new Santa Ana Wildfire Threat Index 2Shorebird's beak inspires UT Arlington research on water collection 2
... viable future biofuel especially if harvested in summer. ... could provide an important alternative to terrestrial grown biofuels; ... a seasonal basis. Harvesting the kelp in July when ... sugar release for biofuel production. , "The storage carbohydrate ...
... the RIKEN Brain Science Institute (BSI) and their ... a little-studied amyloid peptide in promoting Alzheimer,s disease ... is more abundant, more neurotoxic, and exhibits a ... in earlier research, suggesting a potential role in ...
... which could have practical applications for the medical industry. ... self-cleaning sticky surfaces, which could be useful for a ... medical bandages, tyre performance, and even long lasting adhesives," ... who will be presenting this work at the Society ...
Cached Biology News:Biofuels from the sea 2Overlooked peptide reveals clues to causes of Alzheimer's disease 2Frog feet could solve a sticky problem 2
(Date:9/18/2014)... On Tuesday, Secretary of Energy Ernest ... for National Lab Day on the Hill. The event ... laboratory system. Durbin and Risch also formally launched the ... of the reach of the national labs as leaders ... some of our nation's most pressing challenges. , "The ...
(Date:9/18/2014)... -- Research and Markets has announced the ... 2014" report to their offering. ... professional and in-depth study on the current state of ... provides a basic overview of the industry including definitions, ... market analysis is provided for the international markets including ...
(Date:9/18/2014)... LOUIS , Sept. 18, 2014  U.S. biotech ... by signing an exclusive license for technology developed by ... control gene expression in plants, including for applications in ... The technology was developed under the ... officer at Kultevat and former president of the Danforth ...
(Date:9/18/2014)... , Sept. 18, 2014 /PRNewswire/ - Oncothyreon Inc. ... of previously announced concurrent but separate underwritten offerings of ... to the public of $2.00 per share, for expected ... its Series A Convertible Preferred Stock at a price ... gross proceeds of $20 million. Each share of Series ...
Breaking Biology Technology:Lab Day Highlight Labs' Contribution to U.S. Competitiveness and Innovation 2Lab Day Highlight Labs' Contribution to U.S. Competitiveness and Innovation 3Global Human Albumin Industry Report 2014 2Global Human Albumin Industry Report 2014 3Kultevat obtains license of gene switch technology 2Oncothyreon Prices $40 Million Concurrent Public Offerings of Common Stock and Preferred Stock 2Oncothyreon Prices $40 Million Concurrent Public Offerings of Common Stock and Preferred Stock 3
... the world,s most powerful supercomputers, scientists at Lawrence ... are a good match for the future development ... potential for green energy production because of their ... performed on "Franklin," a Cray XT4 massively parallel ...
... ... Produce Fuels Directly from Cellulosic Biomass , ... South San Francisco, CA (PRWEB) January 27, 2010 -- ... ability to make cellulosic-derived advanced biofuels. A collaborative team of researchers from LS9, ...
... ... Sudek , Chairman of Tech Coast Angels (TCA), the nation,s ... 2010 program of increased entrepreneur support, communication and mentoring will be overseen ... today,s constrained economy, entrepreneurs need easier access to viable sources of help ...
Cached Biology Technology:Mismatched alloys are a good match for thermoelectrics 2Mismatched alloys are a good match for thermoelectrics 3LS9, Inc., U.C Berkeley, and JBEI Make Major Breakthrough in Cellulosic Fuels Production 2LS9, Inc., U.C Berkeley, and JBEI Make Major Breakthrough in Cellulosic Fuels Production 3LS9, Inc., U.C Berkeley, and JBEI Make Major Breakthrough in Cellulosic Fuels Production 4Sudek of Tech Coast Angels Announces Network's Increased Commitment to Entrepreneurship and Innovation Through New Easy-Access Programs 2Sudek of Tech Coast Angels Announces Network's Increased Commitment to Entrepreneurship and Innovation Through New Easy-Access Programs 3Sudek of Tech Coast Angels Announces Network's Increased Commitment to Entrepreneurship and Innovation Through New Easy-Access Programs 4
Goat polyclonal to Nebraska Calf Diarrhea Virus (FITC) ( Abpromise for all tested applications). Antigen: Bovine (Nebraska Calf Diarrhea Virus)....
DNA fragmentation factor & Inhibitor of CAD...
Rabbit polyclonal to Methionine Aminopeptidase 2 ( Abpromise for all tested applications). entrezGeneID: 10988 SwissProtID: P50579...
Phospho-FKHR (Thr24)/FKHRL1 (Thr32) Antibody...
Biology Products: