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:5/19/2015)... Fingerprint Cards (FPC) has received an ... and FPC1035 from one if its module partners. Deliveries are ... 2015 and the sensors will be used by smartphone manufacturers ... 2015 hereby amount to 740 MSEK to date. In addition ... and a number of smaller orders not separately communicated amounting ...
(Date:5/19/2015)... May 19, 2015 ... the addition of the  "Genetic Testing Market ... (Logo: http://photos.prnewswire.com/prnh/20130307/600769) , ,A recent report, Genetic ... analysis of the current and future genetic ... tests, their working principles and types are ...
(Date:5/14/2015)... 14, 2015 Research and Markets ( ... "Fingerprint Sensors Market in Smart Mobile Devices " ... that 2014 was a watershed year for fingerprint sensors ... ,Apple Pay,. Apple gave fingerprint sensors a raison d,etre ... Fingerprint sensors are a must-have feature in flagship smartphones. ...
Breaking Biology News(10 mins):Fingerprint Cards Receives Touch Fingerprint Sensor Order of SEK 230 Million and Raises Revenue Guidance for 2015 2Global Genetic Testing Market Outlook 2018 2Global Smart Mobile Devices Fingerprint Sensors Market 2015-2019: Key Vendors are Authentec, Validity Sensors, Fingerprint Cards, Next Biometrics Group. IDEX, and Qualcomm 2
... nest-building social insects, but paper wasps and honey bees organize ... researchers report that despite their differences, these insects rely on ... The study appears in the Proceedings of the ... paper wasps are separated by more than 100 million years ...
... from the National Oceanography Centre in Southampton, have today set ... North Atlantic Ocean affected by ash from the Icelandic volcano ... many regions of the ocean the productivity of microscopic plants, ... web and sequester carbon dioxide from the atmosphere, is limited ...
... BURLINGAME, Calif. , April 27 ... and defense operations division has been certified to ... and the ISO 9001:2008 quality standard.  This certification ... industry quality standards and strengthens our competitive position ...
Cached Biology News:Paper wasps and honey bees share a genetic toolkit 2Scientists to measure impact of volcanic ash on ocean biology 2ARES Aerospace and Defense Division Receives AS9100 Certification 2
(Date:5/21/2015)... (PRWEB) May 21, 2015 uBiome, ... announced a partnership with PicnicHealth, a healthcare company ... Participants diagnosed with Inflammatory Bowel Disease (IBD) will ... a complementary uBiome research kit. Both companies were ... , For more information on this ...
(Date:5/21/2015)... 2015 Imagine being able to ... those of others. Being able to read faces and ... people to anticipate their thoughts and actions like never ... feelings to create unique abstract paintings and video, or, ... inside a first-person-shooter as it creates action, dialog, and ...
(Date:5/21/2015)... 21, 2015 Patent Offering, The patent’s ... diagnostic or therapeutic imaging within a body lumen (open ... endoscope having a low cost, single-use disposable illumination and ... was October 18, 2013 and the patent approval was ... the physician to customize the lighting and magnification of ...
(Date:5/21/2015)... 21, 2015 As part of its ... (BDWMC), Sun Health Foundation funded a $3.25 million project ... pharmacy with the most up-to-date features and technology. , ... The pharmacy's 45 staff members will begin moving from ... in the coming days. , The current pharmacy ...
Breaking Biology Technology:uBiome Partners with PicnicHealth 2uBiome Partners with PicnicHealth 35 Days to Meet ARGUS - The World's First Contactless Emotions Scanner 2IpAuctions™ Presents The Worlds Smallest Disposable Illuminated Endoscope For Auction 2IpAuctions™ Presents The Worlds Smallest Disposable Illuminated Endoscope For Auction 3Sun Health Foundation Provides $3.25M to Expand, Relocate Banner Del E. Webb Medical Center Pharmacy 2Sun Health Foundation Provides $3.25M to Expand, Relocate Banner Del E. Webb Medical Center Pharmacy 3
... test provides laboratory-quality results in physician,s office -, ... a,wholly-owned subsidiary of Quest Diagnostics Incorporated (NYSE: ... Quik F I T(TM) fecal,immunochemical test, a point-of-care ... provides physicians with the sensitivity and,specificity of the ...
... Product, the CorMatrix ... ECM(TM) for Pericardial Closure, ATLANTA, May 8 ... and delivering unique,extracellular matrix (ECM(TM)) biomaterial technologies that harness the,body,s ... company has received 510(k) clearance from the U.S. Food and,Drug ...
... Company Pursues Strategy of Reducing Heart Attack Deaths by ... High-Risk ... - Prescient Medical, Inc., a,privately held medical device company ... experimental results on the chemical,characterization and treatment of rupture-prone ...
Cached Biology Technology:Enterix Inc. Launches Its Point-of-Care Test for Colorectal Cancer Screening 2Enterix Inc. Launches Its Point-of-Care Test for Colorectal Cancer Screening 3Enterix Inc. Launches Its Point-of-Care Test for Colorectal Cancer Screening 4Enterix Inc. Launches Its Point-of-Care Test for Colorectal Cancer Screening 5CorMatrix(R) Announces FDA 510(k) for Novel Biomaterial Implant for Intracardiac Repair 2CorMatrix(R) Announces FDA 510(k) for Novel Biomaterial Implant for Intracardiac Repair 3CorMatrix(R) Announces FDA 510(k) for Novel Biomaterial Implant for Intracardiac Repair 4Prescient Medical, Inc. to Present Data on Identification and Treatment of Rupture-Prone Coronary Plaques at EuroPCR 2008 2
Contained in EZ-Tn5™ Kits and are available separately for sequencing of an insertion site....
Request Info...
Rabbit polyclonal to Syntrophin alpha 1 ( Abpromise for all tested applications). entrezGeneID: 6640 SwissProtID: Q13424...
Mouse monoclonal [4i97] to HLA Class 1 A25 ( Abpromise for all tested applications). Antigen: Full length protein (Human): HLA Class 1 Antigen-A25. Swiss Protein ID: P18462...
Biology Products: