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:8/12/2015)... Aug. 12, 2015   MedNet Solutions , an ... spectrum of clinical research, is proud to announce that ... comprehensive SaaS-based eClinical technology platform, has led the way ... two quarters of 2015.   Q2 2015 and Q1 ... measured by contract value sold in the company,s 15 ...
(Date:8/12/2015)... , Aug. 12, 2015  New research unveiled ... attack Android phones to steal users, fingerprints. Information ... availability of fingerprint scanners on mobile devices, making ... To secure biometrics on mobile devices, HYPR Corp. ... these convenient authentication systems with strong cryptographic security. ...
(Date:8/11/2015)... , August 11, 2015 Today, ZUK ... Already received as well as expected revenues in 2015 that relate ... FPC,s communicated revenue guidance of approximately 2,200 MSEK for 2015. ... is a prominent smartphone manufacturer in ... ZUK selected FPC1 155 for ...
Breaking Biology News(10 mins):MedNet Solutions Experiences Explosive Corporate Growth 2HYPR Corp. Addresses Android Vulnerability That Exposes Ecosystem-wide Biometric Security Challenges 2HYPR Corp. Addresses Android Vulnerability That Exposes Ecosystem-wide Biometric Security Challenges 3FPC's Touch Fingerprint Sensor FPC1155 in ZUK's Smartphone Z1 2
... in eastern U.S.,s forests before a blight wiped it out ... landscape thanks in part to work by a University of ... TIP). Once used extensively for building, for tanning ... wildlife, and even as nutritious fodder for hogs, the American ...
... (Santa Barbara, Calif.) New approaches are needed to ... environmental threats that lie ahead in the 21st century, ... The scientists propose that global biophysical boundaries, identified ... earth system, can define a "safe planetary operating space" ...
... the groundwater table has been dubbed the "Critical Zone" because ... and nutrients necessary for life. Now an interdisciplinary team ... Southwest with the help of a five-year, $4.35 million grant ... "We think of the critical zone as being a ...
Cached Biology News:Tennessee foresters helping to return chestnuts to American forests 2Scientists outline planetary boundaries: A safe operating space for humanity 2Scientists outline planetary boundaries: A safe operating space for humanity 3UA awarded $4.35 million to study Earth's critical zone 2UA awarded $4.35 million to study Earth's critical zone 3
(Date:9/2/2015)... ... September 02, 2015 , ... The wet form ... of special anti-vascular endothelial growth factor agents given by injection into the eye. ... have a scientific protocol for the many millions diagnosed with it. AMD usually ...
(Date:9/2/2015)... -- Research and Markets ( http://www.researchandmarkets.com/research/cqsxmg/gene_therapy ... report "Gene Therapy - Technologies, Markets and Companies" ... gene therapy are difficult to estimate as there is ... marketed in China since 2004. ... The estimates are based on epidemiology of diseases to ...
(Date:9/2/2015)... September 2, 2015 Biovista Inc. ... of the 2015 BeHEARD science challenge, a global competition ... disease researchers, access to the latest life science innovations ... repositioning and pathway analytics capability to support Steven ... in the study of Niemann-Pick Disease Type A (NPA), ...
(Date:9/2/2015)... 2, 2015  Neurotech Pharmaceuticals, Inc., announced today ... multicenter Phase 2 clinical trial of NT-503 Encapsulated ... recurrent subfoveal choroidal neovascularization secondary to age related ... vascular endothelial growth factor (VEGF) receptor protein continuously ... "This landmark proof-of-concept study will evaluate NT-503 ECT ...
Breaking Biology Technology:StemCell GeneticMed Announces That It Has Started Stem Cell Treatments for Age Related Dry Macular Degeneration (AMG) 2Global Gene Therapy Market Study 2015-2024 - Technologies, Markets and Companies Analysis 2Biovista Sponsors Wylder Nation Foundation's Research on Acid Sphingomyelinase Deficiency 2Neurotech Announces First Patient Enrolled in Novel Anti-VEGF Encapsulated Cell Therapy Study 2Neurotech Announces First Patient Enrolled in Novel Anti-VEGF Encapsulated Cell Therapy Study 3Neurotech Announces First Patient Enrolled in Novel Anti-VEGF Encapsulated Cell Therapy Study 4
... Partners and Versant Ventures Lead ... Transform Clinical Microbiology, MADISON, Wis., Sept. 12 OpGen, ... equity financing. The round,was led by CHL Medical Partners, Highland ... participating. In,conjunction, CHL,s Ron Lennox will become chairman of the ...
... PHOENIX, Sept. 11 ThirdBiotech,( http://www.thirdbiotech.com ), ... has begun operations in Arizona. (Logo: ... of ThirdBiotech created the group to foster,networking ... and healthcare,community throughout the state. "It,s important ...
... LAKE CITY, Sept. 11 Dynatronics,Corporation (Nasdaq: ... quarter,and fiscal year ended June 30, 2007 during ... has scheduled a conference call for investors later ... results for the quarter and fiscal year.,Those interested ...
Cached Biology Technology:OpGen Announces $23.6 Million Series A Financing 2OpGen Announces $23.6 Million Series A Financing 3
p230 trans Golgi Purified Anti-Human clone 15, Isotype Mouse IgG 1 , 50 µg Consult technical datasheet for details....
... Molecular Probes intensely fluorescent and highly ... for use in a variety of ... a strong signal. Unfortunately, protein- and ... that may cause them to bind ...
DNA Polymerase I Large (Klenow) Fragment is a DNA polymerase that lacks the 5'Cut Site3' exodeoxyribonuclease activity of intact DNA Polymerase I but it contains the 3'Cut Site5' exodeoxyribonuclease...
... Source: Tritirachium album Description: ... endopeptidase used in a wide range of applications ... peptide bonds mainly following the carboxyl group of ... and is classified as a serine protease. ...
Biology Products: