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:8/29/2014)... repeated climatic shifts over the last 120,000 years ... a team of researchers led by City College ... a new biodiversity metric called "phylogeographic endemism." , ... variation within species is restricted in geographical space. ... and 14 other researchers from institutions in Brazil, ...
(Date:8/29/2014)... available in German . ... the natural nitrogen cycle on Earth and in biological ... thought to depend on nitrite as their source of ... Daims, a microbiologist at the University of Vienna, has ... an alternative source of energy. The oxidation of hydrogen ...
(Date:8/29/2014)... phytoplankton, such as the prolific bloomer Emiliania huxleyi ... have discovered. The finding contradicts the common view that ... depend on scarce supplies of thiamine in the ocean ... think about the ocean," says CIFAR Senior Fellow ... paper with CIFAR fellows John Archibald ...
Breaking Biology News(10 mins):CCNY team defines new biodiversity metric 2Hydrogen powers important nitrogen-transforming bacteria 2Hydrogen powers important nitrogen-transforming bacteria 3Not all phytoplankton in the ocean need to take their vitamins 2Not all phytoplankton in the ocean need to take their vitamins 3
... study of the sense of smell lends support to ... the shape and the vibrational characteristics of odorant molecules. ... , demonstrates the feasibility of the theory first proposed ... chemical bonds the wagging, stretching and rocking of the ...
... A new model system of the cellular skeletons of ... explore how the cells, functional structures assemble. A paper ... by physicist Volker Schaller and his colleagues from the ... It hinges on the findings that a homogeneous protein ...
... November 11-14, 2012 WHERE: The Knoxville ... 2012 is the 60th Annual Meeting of the Entomological Society ... attend. The theme is "A Global Society for a Global ... 2,500 presentations on subjects such as bed bugs, honey bees, ...
Cached Biology News:Odorant shape and vibration likely lead to olfaction satisfaction 2Odorant shape and vibration likely lead to olfaction satisfaction 3Self-forming biological scaffolding 2
(Date:8/28/2014)... Exciting new work by a Florida State University research ... can take your temperature, emit white light, and convert ... molecule looks like a butterfly. , Biwu Ma, associate ... in the FAMU-FSU College of Engineering, created the molecule ... continued to discover that his creation has many other ...
(Date:8/28/2014)... Earlier this month, a report was created by ... Air Force on the performance of vehicles using an ... of fuel made from mustard seeds, offered great potential ... Eco friendly future. In fact, every branch of the ... of foreign oil over the next few years. They ...
(Date:8/28/2014)... August 28, 2014 Whitehouse Laboratories is ... term partnership with PTI Inspection Systems that ... state of the art leak testing method development and ... instruments currently available. As part of this agreement, Whitehouse ... Voltage Leak Detection Instrument developed and manufactured by ...
(Date:8/27/2014)... , Aug. 27, 2014 Rhythm, a biopharmaceutical ... genetic deficiencies that result in metabolic disorders, announced today ... S-1 with the U.S. Securities and Exchange Commission (SEC) ... of its common stock. The number of shares to ... have not yet been determined. Citigroup and ...
Breaking Biology Technology:Novel 'butterfly' molecule could build new sensors, photoenergy conversion devices 2Can Small Farmers and a New Seed Based Biofuel “Green” the World? Major Universities and Even the U.S. Air Force Seem to Think So 2Can Small Farmers and a New Seed Based Biofuel “Green” the World? Major Universities and Even the U.S. Air Force Seem to Think So 3Can Small Farmers and a New Seed Based Biofuel “Green” the World? Major Universities and Even the U.S. Air Force Seem to Think So 4Can Small Farmers and a New Seed Based Biofuel “Green” the World? Major Universities and Even the U.S. Air Force Seem to Think So 5Whitehouse Labs Renews Partnership with PTI Inspection Systems 2Whitehouse Labs Renews Partnership with PTI Inspection Systems 3Rhythm Files Registration Statement for Proposed Initial Public Offering 2
... Calif., May 24, 2012 Questcor Pharmaceuticals, Inc. (NASDAQ: ... at the Jefferies 2012 Global Healthcare Conference in New York ... a.m. ET. A live webcast and subsequent archived ... .  The replay will be available for approximately 90 days ...
... Reportlinker.com announces that a new market ... Optical Coatings: Technologies ... http://www.reportlinker.com/p0157456/Optical-Coatings-Technologies-and-Global-Markets.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Paint_and_Coating INTRODUCTION , ... study analyzes the status of global markets ...
... conventional and current solar cells include high production cost, ... on toxic and scarce materials. Northwestern University researchers have ... minimize all of these solar energy technology limitations. ... the problem of the Grtzel cell, a promising low-cost ...
Cached Biology Technology:Questcor Pharmaceuticals to Present at Jefferies 2012 Global Healthcare Conference 2Optical Coatings: Technologies and Global Markets 2Optical Coatings: Technologies and Global Markets 3Optical Coatings: Technologies and Global Markets 4Optical Coatings: Technologies and Global Markets 5Optical Coatings: Technologies and Global Markets 6Optical Coatings: Technologies and Global Markets 7Optical Coatings: Technologies and Global Markets 8Optical Coatings: Technologies and Global Markets 9Optical Coatings: Technologies and Global Markets 10Optical Coatings: Technologies and Global Markets 11Optical Coatings: Technologies and Global Markets 12Taking solar technology up a notch 2Taking solar technology up a notch 3