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:10/15/2014)... , Oct. 15, 2014 Sandata ... for home and community-based care, today announced it ... implementing Sandata,s Santrax® Electronic Visit Verification™ Solution (EVV™) ... is a home health company founded in 1996 ... . The study details ...
(Date:10/15/2014)... linked increased resistance to bacterial pneumonia in female mice ... estrogen. , Females are naturally more resistant to respiratory ... has shown that increased resistance to bacterial pneumonia in ... synthase 3 (NOS3). They also show that this enzyme ... sex hormone estrogen. , The team, lead by Professor ...
(Date:10/14/2014)... Cancer Research shows SIRT6—a protein known to inhibit ... development of skin cancers by turning on an enzyme ... cells. , Previously considered protective, SIRT6 is part of ... regulate genomic stability and prevent some of the genetic ... which can lead to cancer. This study, in the ...
Breaking Biology News(10 mins):Sandata Announces Case Study with Quality Care Services, Inc. 2Two-faced gene: SIRT6 prevents some cancers but promotes sun-induced skin cancer 2
... fertilizer by a chemical process that involves high temperature ... ambient temperature and pressure. The process, called nitrogen fixation, ... plant life. , A research team from Utah State ... biological process, carried out by microbes that contain the ...
... major science prize was today awarded to a researcher who is ... hear someone in a noisy place, such as a party or ... in these situations. , Not being able to hear a person's ... the most common problems for Britain's nine million people with a ...
... that may be able to prevent future food-borne illness, ... contaminated spinach. , Together, these technologies rapidly detect and ... a laser to detect and identify many types of ... as expensive as current technology. , A second ...
Cached Biology News:Nature's process for nitrogen fixation caught in action 2Train your brain to hear your friends at a party 2Train your brain to hear your friends at a party 3Train your brain to hear your friends at a party 4Researchers develop technologies to devour food pathogens 2Researchers develop technologies to devour food pathogens 3
(Date:10/22/2014)... The Americas Inorganic Refrigerants Market report defines ... with analysis and forecast of revenue. , Browse ... Market report, to get an idea of the ... of the segmentation in the Americas inorganic refrigerants ... figures. , http://www.micromarketmonitor.com/market/americas-inorganic-refrigerants-4191654241.html , Inorganic ...
(Date:10/22/2014)... 2014 Involution Studios , a ... a new infographic, Understanding Ebola . The ... designed, easy to follow informative tool for anyone wanting ... symptoms and prevention. , "As the news has spread ... Ebola outbreak represents not only a healthcare crisis with ...
(Date:10/22/2014)... (PRWEB) October 22, 2014 Grace Century, ... and healthcare projects, announces the addition of Dr. ... to its advisory team. Dr. Siddiqui will provide further ... , A graduate of University College Medical School ... degreed in medicine in 2001. With further certification as ...
(Date:10/22/2014)... , Oct. 22, 2014   Synthetic Biologics, Inc. ... pathogen-specific therapies for serious infections and diseases, announced today ... a Notice of Allowance for a composition of matter ... C. difficile program, SYN-004. This is Synthetic Biologics, ... the U.S. and adds to the Company,s extensive ...
Breaking Biology Technology:The Americas Inorganic Refrigerants Market is estimated to grow to $71.6 million by 2018 - New Report by MicroMarket Monitor 2The Americas Inorganic Refrigerants Market is estimated to grow to $71.6 million by 2018 - New Report by MicroMarket Monitor 3Involution Studios' Ebola Infographic Provides Key Disease Information and Statistics at a Glance 2Dr. Yousef Siddiqui joins the Grace Century Advisory Team 2Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 2Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 3Synthetic Biologics Announces Allowance of Key U.S. Composition of Matter Patent for C. difficile Program 4
... Joshua Hare to Chair the Board LA JOLLA, Calif., ... CDXP) announced today the formation of a Medical Advisory ... program of CDP-1050 for the treatment of heart failure.The ... in the design and oversight of the planned CDP-1050 ...
... /PRNewswire-Asia-FirstCall/ -- China Biologic,Products, Inc. (OTC ... the,Company,), one of the leading plasma-based ... China (,PRC,), today announced that the ... Products Co.,Ltd. (,Shandong Taibang,) has been ...
... Pain IndicationsLA JOLLA, Calif., Feb. 11 TorreyPines ... announced that oral administration of NGX426, an AMPA/kainate-type ... healthy male and female subjects when dosed once ... this Phase I trial demonstrating the safety and ...
Cached Biology Technology:Cordex Pharma Forms Heart Failure Medical Advisory Board 2Cordex Pharma Forms Heart Failure Medical Advisory Board 3Cordex Pharma Forms Heart Failure Medical Advisory Board 4Cordex Pharma Forms Heart Failure Medical Advisory Board 5China Biologic Products Receives High-Technology Enterprise Certification to Qualify for Preferential Income Tax Rate 2China Biologic Products Receives High-Technology Enterprise Certification to Qualify for Preferential Income Tax Rate 3First Multiple Dose Clinical Trial of TorreyPines Therapeutics' Oral Compound NGX426 Demonstrates Compound Is Safe and Well-Tolerated 2First Multiple Dose Clinical Trial of TorreyPines Therapeutics' Oral Compound NGX426 Demonstrates Compound Is Safe and Well-Tolerated 3First Multiple Dose Clinical Trial of TorreyPines Therapeutics' Oral Compound NGX426 Demonstrates Compound Is Safe and Well-Tolerated 4
... of next-generation features into a small-footprint design, ... flexible laboratory solutions. It puts every aspect ... dispensing, and integrations into a single, ... as it is efficient and economical. The ...
... The mini incubation trays are ... to screen antigens that have ... Each tray has eight 10.5 ... that accommodate strips cut from ...
... The GenomeLab GeXP Genetic Analysis System ... scalable, multiplexed PCR*. The systems patented ... standard multiplexed PCR analysis to just a ... GeXP delivers more genes per reaction and ...
... Kit is a simple high performance method ... Removes detergents without significant dilution of protein ... on the Detergent-OUT Spin column and collect ... are suitable for removing detergent from a ...
Biology Products: