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:2/12/2015)... Minn. , Feb. 12, 2015   ... company specializing in clinical study management systems, has ... Program , further distinguishing iMedNet ... Clinical Research Organizations (CROs) and healthcare consultants.  Building ... support, prospective customer referrals and numerous co-marketing opportunities), ...
(Date:2/5/2015)... , 5. Februar 2015 Marken ... Logistikunternehmen und hat eine neue Marketingkampagne gestartet, ... (Clinical Logistics Organization – CLO) der Branche ... lautet First , mit Schwerpunkt auf ... http://photos.prnewswire.com/prnh/20150205/173753 Logo - ...
(Date:2/5/2015)... New Market Research Reports Title ... To 2020 has Been Added to GrandViewReseach.com Report Database ... to reach USD 5.10 billion by 2020, according to ... cameras help identify the site of tissue damage in ... demand in medical imaging applications. They have been extensively ...
Breaking Biology News(10 mins):MedNet Solutions Announces Key Enhancements To Its iMedNet Partner Program 2Marken startet Kampagne mit Patienten im Mittelpunkt 2Marken startet Kampagne mit Patienten im Mittelpunkt 3IR Camera Market Worth $5.10 Billion By 2020: Grand View Research, Inc. 2IR Camera Market Worth $5.10 Billion By 2020: Grand View Research, Inc. 3
... UT Southwestern Medical Center have identified a group of ... the embryonic stages of development, a discovery that could ... "We engineered a fruit fly so that the heart ... type of malformation, completely unexpectedly," said Dr. Eric Olson, ...
... the flowers they pollinate, has declined significantly in Britain and ... led by the University of Leeds and published in Science ... evidence of a widespread decline in bee diversity. , Concerns ... services, but until recently most of the evidence has been ...
... Cocoa butter has long been used topically in many ... be good for the skin. Now, new research just ... benefits of consuming flavanol-rich cocoa and how it might ... found that certain components in cocoa may actually help ...
Cached Biology News:UT Southwestern researchers find gene mutation that leads to 'broken hearts' 2Wild bees and the flowers they pollinate are disappearing together 2Wild bees and the flowers they pollinate are disappearing together 3New study reveals components of cocoa may enhance the appearance of the skin 2
(Date:3/5/2015)... Plant disease specialists from around the world ... Meeting of The American Phytopathological Society. Details of ... at APSnet.org/meet . , The Preliminary Daily Schedule ... held August 1-5, 2015 in Pasadena, California, U.S.A. The ... and committee meetings, all carefully balanced to deliver in-depth ...
(Date:3/5/2015)... TORONTO , March 5, 2015 /PRNewswire/ - Aptose ... developing new therapeutics and molecular diagnostics that target the ... G. Rice , Ph.D., Chairman, President and Chief Executive ... Conference on Tuesday, March 10 th at 9:30 ... Laguna Niguel, CA. Dr. Rice will provide ...
(Date:3/5/2015)... 2015 e2b teknologies , a ... in Northeast Ohio, today announced a leading independent multi-specialty ... its upgrade to the latest version of Sage ... practice of its kind in the region, the organization ... transactions, so efficiency and data accessibility are paramount to ...
(Date:3/4/2015)... BALTIMORE , March 4, 2015 In ... at the UPMC Center for Health Security review the ... that can be used as bioweapons. The article, "Clinical ... online today on the website of the New ... authors—Amesh Adalja, Eric Toner , and Tom Inglesby—review ...
Breaking Biology Technology:American Phytopathological Society Announces Annual Meeting Daily Schedule 2Aptose Biosciences to Present at the 27th Annual ROTH Conference 2Aptose Biosciences to Present at the 27th Annual ROTH Conference 3Physician Group Practice Chooses e2b teknologies to Support Its Upgrade to Sage 100 ERP 2014 2Latest Clinical Information On Bioterrorism Threats 2
... a leading clinical stage biotechnology company with offices ... proprietary stem cell and tissue engineering based therapies, ... Administration (FDA) to initiate a Phase I clinical ... treatment of Critical Limb Ischemia (CLI). The FDA ...
... diamond-like lattice composed of gold nanoparticles and viral particles, ... DNA. The structure a distinctive mix of hard, ... linked by the very stuff of life, DNA ... an assortment of materials to create infinitesimal devices. ...
... Mass., Jan. 27, 2011 Waters Corporation (NYSE: ... of NuGenesis® Scientific Data Management System 7.1 Service ... Windows 7, both Professional and Enterprise 32bit versions, ... (CDS).   Additionally, the NuGenesis SDMS ...
Cached Biology Technology:Arteriocyte Receives FDA Approval to Move Forward with Critical Limb Ischemia Trial 2Arteriocyte Receives FDA Approval to Move Forward with Critical Limb Ischemia Trial 3A mix of tiny gold and viral particles -- and the DNA ties that bind them 2Waters Releases NuGenesis SDMS 7.1 Validated to Support Windows 7 and Empower 3 CDS 2
... a new generation of microarrays to detect ... you to rapidly elucidate alternatively spliced events ... for drug discovery. The service combines ExonHits ... and customized analysis with Agilents robust microarray ...
... The new Adept CE 4100 high ... superb flow precision, with software drive compensation, ... from 0.001-10mL/min are selectable in 0.001mL steps. ... are inert and bio-compatible., Pumps may be ...
... CHEF-DR III variable angle system, 220-240 V, is ... 6 Mb DNA fragments by pulsed field gel ... power module, variable-speed pump, 14 x 13 cm ... 15-well, 1.5 mm thick comb, screened cap, disposable ...
... Immuno-Blot PVDF membrane and filter paper ... PVDF membrane and two sheets of thick ... blotting membrane and filter paper sandwich. These ... high binding capacity immunoblotting fit Ready Gel-sized ...
Biology Products: