Navigation Links
Mutant gene causes severe kidney disease in infants

Scientists at the University of Michigan Medical School have discovered a previously unknown cause for a severe, early-onset form of kidney disease and renal failure in children: recessive mutations in a gene called phospholipase C epsilon or PLCE1.

Identifying the mutant gene is important to scientists because PLCE1 affects the development of podocytes ?specialized cells that play a vital role in the kidney's ability to remove waste products from blood, while retaining important blood proteins.

To parents of infants with inherited PLCE1 mutations, the study is especially significant because it provides the first evidence that some types of a kidney disease called nephrotic syndrome, if diagnosed early in infancy, may be treated successfully in children.

"This is the first report of infants with two mutations in a recessive gene for steroid-resistant nephrotic syndrome who nevertheless responded to steroid treatment," says Friedhelm Hildebrandt, M.D., the U-M's Frederick G L Huetwell Professor for the Cure and Prevention of Birth Defects. "The early onset form of the disease is severe and infants often go into end-stage renal disease within the first year of life. So, until now, most physicians believed there was no point in trying treatment."

The study will be published Nov. 5 in Nature Genetics as an Advance Online Publication, and will be printed in the journal's December 2006 issue.

There are many types and many causes of nephrotic syndrome, but basically it is a disease of the glomerulus, the kidney's main blood filtration unit. There are about one million of these filtration units in each human kidney. As blood flows through a network of tiny capillaries in the glomerulus, excess water, salts and toxic molecules are removed and flushed out in urine, while important blood proteins like albumin are retained in the bloodstream. If the kidney's filtering units don't work properly, nephrotic syndrome develops. Protei
'"/>

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:7/30/2014)... A deep-sea octopus protected and tended her eggs until ... published July 30, 2014 in the open-access journal ... Aquarium Research Institute and colleagues. , Octopuses typically have ... females protect and take care of their fertilized eggs ... eggs for 1 to 3 months, but little is ...
(Date:7/30/2014)... the shortest distance between two points is a straight ... have been taking the familiar axiom to heart. ... to be intense, with each racing for the chance ... species, sperm form cooperative groups that allow them to ... A new study, conducted by Heidi Fisher, a post-doctoral ...
(Date:7/30/2014)... joint venture between The University of Texas at San ... Center at San Antonio, has selected the winners of ... from UTSA and Lei Huang from the Health Science ... engineered ferritins for tracking and protecting neural stem cells ... focused on finding a treatment for stroke through stem ...
Breaking Biology News(10 mins):Deep-sea octopus has longest-known egg-brooding period 2When cooperation counts 2When cooperation counts 3
... NANO -- World,s smallest antenna . . . ... metal or dipole antenna, electronic devices of tomorrow could incorporate ... possible by a design that allows an electrically charged nano-mechanical ... be the days when we need to match the antenna ...
... the day a machine can draw your blood, screen it ... and pop out a drug tailor-made for your DNA. ... point irregularities which have accumulated over time that can lead ... National Institutes of Health has tapped Viterbi professor Andrea Armani ...
... Finally, a gazelle comes into view. The cheetah plunges forward, ... the hapless gazelle by the jugular in less than a ... A blue whale surfaces, blasting water high from its ... with air. Then it descends again to look for krill, ...
Cached Biology News:Story tips from the US Department of Energy's Oak Ridge National Laboratory October 2010 2Story tips from the US Department of Energy's Oak Ridge National Laboratory October 2010 3Fighting cancers by tagging their triggers 2Slicing proteins with Occam's Razor 2Slicing proteins with Occam's Razor 3Slicing proteins with Occam's Razor 4
(Date:7/31/2014)... , July 31, 2014 According ... Research "Electrodes for Medical Devices Market (Diagnostic Electrodes - ... Electrodes - TENS, Pacemakers, Defibrillators, Electrosurgical and Other Electrodes) ... Forecast, 2013 - 2019," the global electrodes market for ... 2012 and is estimated to reach a market worth ...
(Date:7/31/2014)... DIEGO and SHENZHEN, China ... announced today the purchase of an Irys™System ... organization. BGI selected BioNano,s platform to enable comprehensive exploration ... improved assemblies for various organisms of interest, including those ... will partner together to develop new methods for multiplexing ...
(Date:7/31/2014)... IL (PRWEB) July 31, 2014 ... of automation across the U.S., increasing unemployment, depressing ... class. It is a Catch 22—we need ... but this means fewer jobs,” says economist and ... just-released Pollina Corporate Top 10 Pro-Business States for ...
(Date:7/31/2014)... 2014 Sales Horizons, a leader in ... sales training course – Mastering the Complex Sale ... , Drawn from proven sales training programs used by ... Complex Sale online sales training course is available to ... face-to-face contact with customers, like technical support, engineers, clinical ...
Breaking Biology Technology:Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 2Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 3Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 4Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 5Electrodes for Medical Devices Market Expected to Reach USD 1.45 Billion Globally in 2019: Transparency Market Research 6BioNano Genomics Announces the Purchase of the Irys System by BGI 2BioNano Genomics Announces the Purchase of the Irys System by BGI 3BioNano Genomics Announces the Purchase of the Irys System by BGI 4ITRA Global Affiliate’s Pollina Corporate Top 10 Pro-Business States Minimize the Impact of Automation on Middle Class and Unemployment 2ITRA Global Affiliate’s Pollina Corporate Top 10 Pro-Business States Minimize the Impact of Automation on Middle Class and Unemployment 3ITRA Global Affiliate’s Pollina Corporate Top 10 Pro-Business States Minimize the Impact of Automation on Middle Class and Unemployment 4Sales Horizons Offers Mastering the Complex Sale - a Comprehensive, Online Sales Skills Training Course 2Sales Horizons Offers Mastering the Complex Sale - a Comprehensive, Online Sales Skills Training Course 3
... SynCardia Systems, Inc. ( www.syncardia.com ), manufacturer of ... today that Texas Children,s Hospital in Houston has discharged ... for a matching donor heart at home. On Aug. ... Freedom® portable driver, a wearable power supply for his ...
... 7, 2011 Eppendorf AG has licensed ... Bio Inc. for use in their thermal cyclers, including ... technology in its Eppendorf Mastercycler® pro gradient, Mastercycler gradient ... based in Hamburg, Germany, develops, produces and distributes instruments ...
... 16 Nanotechnology products and processes were unveiled at ... mark the fifty-second anniversary celebrations of the Asian ... Center of Excellence in Nanotechnology (CoEN) at AIT, ... and processes demonstrates potential development of Thailand as ...
Cached Biology Technology:1st Pediatric Total Artificial Heart Patient Discharged Home Using Freedom® Portable Driver 21st Pediatric Total Artificial Heart Patient Discharged Home Using Freedom® Portable Driver 3AIT unveils portfolio of 16 nanotechnology products 2
... aa 16-25 of human GSK3 alpha. ... Store vial at -20 C prior to opening. Dilute ... and freeze at -20 C or below. Avoid cycles ... Sub-Family: not assigned-Other ...
... ligase (AMP forming), Acetate thiokinase ... Physical form: Lyophilized powder containing ... glutathione Preparation Unit Definition: One ... coenzyme A from acetate, ATP and coenzyme ...
...
... PGF2α is a metabolically stable ... a potent uterine stimulant and ... intramuscularly to induce labor. It ... progesterone concentrations when given as ...
Biology Products: