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:5/14/2015)... 2015  Verificient Technologies, Inc., a technology ... remote proctoring, announced a new alliance partnership ... creator of the Canvas Learning Management System ... will benefit from the seamless integration of ... a fully integrated multifactor biometrics behavioral application, ...
(Date:5/8/2015)... , May 8, 2015 Synaptics Inc. (NASDAQ: ... announced that members of the executive management team will present ... Annual Technology, Media and Telecom Conference Date: May 18, ... Boston, MA Cowen and ... Time: 2:45pm ET Location: The New York Palace Hotel, ...
(Date:4/27/2015)... 2015 NXT-ID, Inc. (NASDAQ: NXTD ) ... on the growing mobile commerce market, announces that its ... the first week of May, 2015 and will be ... Gino Pereira , Chief Executive ... company as Wocket® enters the consumer market. We would ...
Breaking Biology News(10 mins):Verificient and Instructure Announce Alliance Partnership to Provide Online Proctoring for K-12 and Higher Education Institutions 2Synaptics to Present at Upcoming Investor Conferences 2Wocket, the Smartest Wallet You Will Ever Own, Announces Shipment to Pre-order Customers 2Wocket, the Smartest Wallet You Will Ever Own, Announces Shipment to Pre-order Customers 3
... some 250 million years ago likely was accelerated by ... to a new study by a University of California, ... The researchers do not rule out the possibility ... in pathogenic soil bacteria that could devastate forests already ...
... LANSING, Mich. Most middle-schoolers struggle to grasp the ... crucial to advancing solutions to health problems and disease ... a Michigan State University researcher. In the journal ... heredity lessons should be taught with broader context and ...
... GTSI Corp. (NASDAQ: GTSI ), a leading ... governments, announced today the award of the Biometric Automated ... will provide war fighters mobile biometric devices to assist ... field. The contract has a total value of $159 ...
Cached Biology News:Did past climate change encourage tree-killing fungi? 2Did past climate change encourage tree-killing fungi? 3Michigan State scholar leads effort to reform genetics instruction 2GTSI Wins Department of Defense Contract to Provide Biometric Automated Toolset Systems for U.S. Army 2
(Date:5/21/2015)... , May 21, 2015  The EveryLife ... Hatch (R-UT) and Amy Klobuchar ... Now Accelerating Cures & Treatments, or OPEN ACT. ... disease patient advocacy organizations, this bipartisan legislation promises ... affordable medicines to rare disease patients by incentivizing ...
(Date:5/21/2015)... 2015 W. R. Grace & ... in Worms, Germany has received good manufacturing practice ... the International Pharmaceutical Excipient Council (IPEC) Foundation. ... its SYLOID® FP brand of pharmaceutical grade excipient ... the Curtis Bay, Maryland (USA) and Sorocaba, Brazil ...
(Date:5/21/2015)... LOS ANGELES , May 21, 2015 /PRNewswire/ ... research and development company specializing in oncology, today ... 2 clinical trial with aldoxorubicin for the treatment ... of brain cancer.  The open-label, multisite trial is ... of aldoxorubicin in patients whose tumors have progressed ...
(Date:5/21/2015)... DUBLIN , May 20, 2015 Research ... announced the addition of the "2015 Global ... to their offering. The primary goal ... of flow cytometry instruments and reagents. Key information ... drive the selection of flow cytometers, predominantly used ...
Breaking Biology Technology:Advocates Cheer Senate Leaders for Introducing Bipartisan Bill to Increase Number of Rare Disease Treatments 2Grace European Facility Receives GMP Excipient Certification for SYLOID® FP Silica Gel 2CytRx Reports Positive Updated Phase 2 Aldoxorubicin Clinical Trial Results in Glioblastoma Multiforme (Brain Cancer) 2CytRx Reports Positive Updated Phase 2 Aldoxorubicin Clinical Trial Results in Glioblastoma Multiforme (Brain Cancer) 3CytRx Reports Positive Updated Phase 2 Aldoxorubicin Clinical Trial Results in Glioblastoma Multiforme (Brain Cancer) 4CytRx Reports Positive Updated Phase 2 Aldoxorubicin Clinical Trial Results in Glioblastoma Multiforme (Brain Cancer) 5CytRx Reports Positive Updated Phase 2 Aldoxorubicin Clinical Trial Results in Glioblastoma Multiforme (Brain Cancer) 6CytRx Reports Positive Updated Phase 2 Aldoxorubicin Clinical Trial Results in Glioblastoma Multiforme (Brain Cancer) 7Global Survey on Flow Cytometry Adoption Trends 2015 2
... Mithridion , the University of Wisconsin-Madison spinoff developing a ... round of financing with $1.6 million, of which it has ... equipment, hiring scientists and developing drug candidates. , ,Trevor Twose, ... about 18 months, and that he may hire six people ...
... Madison, Wis. Third Wave Technologies is ... CEO transition, according to a press release. , ,Maneesh Arora, ... is filed. Arora has held senior positions in marketing and ... on. Gregory Hamilton, 35, will be vice president of finance. ...
... sent an announcement of pending Illinois broadband legislation (20 ... its synopsis: , Creates the Universal Access to Broadband ... (CMS) to create and maintain a map of broadband ... held broadband infrastructure shall be available for lease on ...
Cached Biology Technology:Mithridion raises $1.6M through angel networks 2Proposed Illinois broadband act falls short 2Proposed Illinois broadband act falls short 3Proposed Illinois broadband act falls short 4Proposed Illinois broadband act falls short 5
...
...
... solid. An N-nitroso-containing diabetogenic compound that ... in pancreatic islets. An antibiotic effective ... and DNA strand breaks in pancreatic ... Soluble in H 2 O. RTECS ...
...
Biology Products: