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:9/16/2014)... on September 13, 2014. The fire is human-caused and ... 2,300 acres in size and is mostly being fueled ... calm Monday night due to higher humidity. Yesterday ... beginning to construct a fireline on the West and North ... on the fire: , 7 20-person Crews, 4 Hot Shot ...
(Date:9/16/2014)... of rock hit the Yukatan peninsula near the site of ... teratons of TNT. It left a crater more than 150 ... volcanism are widely accepted to have wiped out the dinosaurs ... what happened to the plants on which the dinosaurs fed? ... of Arizona reveals that the meteorite impact that spelled doom ...
(Date:9/16/2014)... votes for independence later this week, its Government could ... that fracking is necessary, research has revealed. , The ... public perception of shale gas extraction in the UK ... north of the border are the least supportive of ... in the University,s School of Geography, said: "The clear ...
Breaking Biology News(10 mins):Meteorite that doomed the dinosaurs helped the forests bloom 2Meteorite that doomed the dinosaurs helped the forests bloom 3Scottish people most sceptical on fracking, survey shows 2Scottish people most sceptical on fracking, survey shows 3
... in their own interests and do not cooperate ... severity of infection. The selfish behaviour ... treat antibiotic-resistant infections, according to research being presented ... today. Bacteria work together by using a ...
... TORONTO, ON - Widespread reports of a decline in the ... and speculation that pollination is also likely on the decline. ... long-term evidence of a downward trend in pollination, while also ... numbers may have declined at our research site, but we ...
... San Diego have discovered that a gene critical for programmed ... stem cells, a finding that could help to improve the ... chemotherapy or radiation therapy that kills cancer cells by inducing ... side effects for human cancer patients is the depletion of ...
Cached Biology News:Backstabbing bacteria: A new treatment for infection? 2Biologists find way to reduce stem cell loss during cancer treatment 2
(Date:9/17/2014)... , Sept. 17, 2014 The global consumption of ... 2019. Squalene is a natural skin-identical chemical that finds applications ... care, food supplements, pharmaceuticals, and in other applications like high ... market has a few major players and is regionally segregated. ... Special Liver Oil Co. Ltd. ( Japan ), ...
(Date:9/17/2014)... TRIANGLE PARK, N.C. , Sept. 17, 2014 /PRNewswire/ ... and presentation topics that will be featured at the ... Hamner Conference Center on December 3 and 4, 2014. ... managers are invited to hear the following: ... PhD UC San Diego Skaggs School of ...
(Date:9/17/2014)... (PRWEB) September 17, 2014 ... Two-Dimensional Liquid Chromatograph (2D-LC), which offers a ... sample matrices. The system provides a new ... analytes, which is beneficial to scientists analyzing ... and natural products. , Comprehensive 2D-LC combines ...
(Date:9/17/2014)... 2014 A biodegradable polymer can ... as bacteria, fungi, and algae into smaller units ... inorganic compounds, carbon dioxide, and humus in a ... and improved costs, biodegradable polymers are proving to ... to conventional polymers. Primary factors that are responsible ...
Breaking Biology Technology:Squalene Market by Source (Animal & Vegetable) & by End-user Industry (Cosmetics, Pharmaceuticals & Food Industry) - Global Trends & Forecasts to 2019 2Squalene Market by Source (Animal & Vegetable) & by End-user Industry (Cosmetics, Pharmaceuticals & Food Industry) - Global Trends & Forecasts to 2019 3In Silico Drug Discovery Conference Announces Speakers and Topics 2In Silico Drug Discovery Conference Announces Speakers and Topics 3In Silico Drug Discovery Conference Announces Speakers and Topics 4In Silico Drug Discovery Conference Announces Speakers and Topics 5In Silico Drug Discovery Conference Announces Speakers and Topics 6In Silico Drug Discovery Conference Announces Speakers and Topics 7Shimadzu’s New Nexera-e Two Dimensional Comprehensive Liquid Chromatograph Empowers Laboratories to Separate Even the Most Complex Mixtures 2Growing Demand for Eco-Friendly Products Drives the Global Biodegradable Polymers Market, According to New Report by Global Industry Analysts, Inc. 2Growing Demand for Eco-Friendly Products Drives the Global Biodegradable Polymers Market, According to New Report by Global Industry Analysts, Inc. 3
... DENVER, Nov. 8, 2011 Quest Diagnostics joined the ... participate in the American Cancer Society,s historic Cancer Prevention ... this national, longitudinal study is between November 8 and ... lifestyle, environmental and genetic factors that influence cancer risk ...
... VIENNA, November 8, 2011 Santo VC ... AFFiRiS AG   effective immediately and has also secured an ... same time, the German MIG fund increased its existing investment ... fund. As a result, AFFiRiS now has an additional EUR ...
... Biotech, Inc. (a suburban Philadelphia-based Company) announced today, at ... brand name of its flagship product to "RENADYL™." Formerly ... probiotic formulation helps maintain healthy kidney function. At a ... and health benefits of probiotics, Kibow has opted for ...
Cached Biology Technology:Quest Diagnostics Encourages Denver Area Residents to Enroll in Historic American Cancer Society Prevention Study November 8th - 19th 2Quest Diagnostics Encourages Denver Area Residents to Enroll in Historic American Cancer Society Prevention Study November 8th - 19th 3AFFiRiS AG: Capital Increase: AFFiRiS Brings Santo VC and MIG 11 on Board 2AFFiRiS AG: Capital Increase: AFFiRiS Brings Santo VC and MIG 11 on Board 3AFFiRiS AG: Capital Increase: AFFiRiS Brings Santo VC and MIG 11 on Board 4Kibow Changes Name of Flagship Kidney Function Support Product to 'RENADYL™' 2
... Cell Lines ,High Quality, Functionally-Validated, Ion Channel ... known for having a critical role in ... a key function in pain, CNS and ... have been investigated in therapeutic areas, such ...
... PrecisION Ion Channel Cell Lines ,High ... ,Ion channels are well known for having ... function and consequently have a key function ... that modulate ion channels have been investigated ...
... PrecisION Ion Channel Cell Lines ,High ... ,Ion channels are well known for having ... function and consequently have a key function ... that modulate ion channels have been investigated ...
Mouse polyclonal antibody raised against a partial recombinant CD320. NCBI Entrez Gene ID = 51293...
Biology Products: