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)... made some surprising discoveries about the body,s initial ... (SIV), the team found that specialized cells in ... to viral invasion and are the source of ... beta (IL-1β). , Though aimed at the ... gut epithelium that provides a barrier to protect ...
(Date:8/29/2014)... Scientists at the Barshop Institute for Longevity and ... the UT Health Science Center at San Antonio, have ... the longest-lived rodent, the naked mole rat. , ... naked mole rats protects and alters the activity of ... proteins. , The factor also protects proteasome function in ...
(Date:8/29/2014)... about what genetic changes transform wild animals into domesticated ... is a University of Montana assistant professor, has made ... of the brain and the nervous system were particularly ... 28 in Science and gives answers to ... ., The domestication of animals and plants, a prerequisite ...
Breaking Biology News(10 mins):The early cost of HIV 2Factor in naked mole rat's cells enhances protein integrity 2New research reveals how wild rabbits were genetically transformed into tame rabbits 2New research reveals how wild rabbits were genetically transformed into tame rabbits 3
... 23, 2013) A study led by Robert ... department of anatomy and regenerative biology at the ... Health Sciences (SMHS), may help predict which patients ... treatments. The study, titled "Identification of an ABCB1 ...
... As the Asian carp population grows and the threat ... the Chicago canals is monitored, a University of Illinois researcher ... Cory Suski experimented with adding carbon dioxide (CO2) into the ... the electric fence, which has been used to divert the ...
... A UT Arlington bioengineering researcher has teamed with a ... system that will help stimulate lung growth and function ... Kytai Nguyen, an associate professor of bioengineering, is working ... funded through a $3.4 million National Institutes of Health ...
Cached Biology News:New research may aid treatment of multiple myeloma patients 2New research may aid treatment of multiple myeloma patients 3Underwater CO2 shows potential as barrier to Asian carp 2Underwater CO2 shows potential as barrier to Asian carp 3Bioengineer studying how to send drugs to lungs through nanotechnology 2
(Date:8/30/2014)... Dallas, TX (PRWEB) August 31, 2014 ... Industry is a professional and in-depth study on ... industry in Global and China. , The report ... definitions, applications and industry chain structure. Global market ... with a focus on history, developments, trends and ...
(Date:8/29/2014)... SAN DIEGO, Aug. 29, 2014  Pfenex Inc. ... in the development of high-value and difficult to ... business update and reported financial results for the ... "With the successful completion of our initial public ... advance our biosimilar product candidates, derived from our ...
(Date:8/29/2014)... Electronic circuits are based on electrons, but one of ... photonic circuits, i.e. circuits based on light (photons) instead ... to create a stream of single photons and control ... sorts of attempts to achieve this control, but now ... creating a steady stream of photons emitted one at ...
(Date:8/29/2014)... The global companion diagnostics market ... It is expected to grow at a CAGR ... valued at $1.8 billion in 2013, according to ... , For more information regarding analysis details and ... research report, titled “Companion Diagnostics Market (Breast Cancer, ...
Breaking Biology Technology:Electrical Insulating Varnish Market World, China Regional Analysis & 2020 Forecasts Available at DeepResearchReports.com 2Electrical Insulating Varnish Market World, China Regional Analysis & 2020 Forecasts Available at DeepResearchReports.com 3Pfenex Reports Second Quarter 2014 Results and Provides Business Update 2Pfenex Reports Second Quarter 2014 Results and Provides Business Update 3Pfenex Reports Second Quarter 2014 Results and Provides Business Update 4Pfenex Reports Second Quarter 2014 Results and Provides Business Update 5Pfenex Reports Second Quarter 2014 Results and Provides Business Update 6Pfenex Reports Second Quarter 2014 Results and Provides Business Update 7Pfenex Reports Second Quarter 2014 Results and Provides Business Update 8Breakthrough in light sources for new quantum technology 2Companion Diagnostics Market to Hit $5.6 Billion in 2019: Transparency Market Research 2Companion Diagnostics Market to Hit $5.6 Billion in 2019: Transparency Market Research 3
... note: , ,As promised, our latest e-mail newsletter contains the ... has increased from around 30,000 visitors a month to over ... than a few stories weve paid attention to what drew ... who has already registered for Fusion2006. The conference isnt until March ...
... Corporation for Assigned Names and Numbers, is all about a ... golden key is a name on the net called a ... key management system so that billions of single domain name ... problem. After all, without this access, the Internet has no ...
... researchers led by stem-cell pioneer James Thomson have ... and better-defined lab conditions than previous cultures. , ... could pave the way for stem-cell treatments with ... contamination. Growing stem cells in the lab requires ...
Cached Biology Technology:When will the Internet be divided among nations? 2When will the Internet be divided among nations? 3When will the Internet be divided among nations? 4When will the Internet be divided among nations? 5
Trop-2 Purified Anti-Human clone 162-46, Isotype Mouse IgG 1 , 100 µg Consult technical datasheet for details....
... PCRx Enhancer System is ... polymerases to optimize PCR of ... 10X PCRX Enhancer Solution with ... higher primer specificity broader magnesium ...
... Clone/PAD: ZMD.473. Immunogen: Synthetic peptide ... the mouse junctophilin-2. Specificity: Specific ... Mouse (positive controls: mouse skeletal muscle ... Applications: Western blotting Immunohistochemistry(froz) ImmunofluorescenceStorage: ...
Abin-2 (N-16)...
Biology Products: