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:4/20/2015)... 20, 2015 The announcement comes ... Glenbeigh Records Management (GRM), Ireland,s foremost ... Bank. Having built up an impressive track record of clients ... player within the records management sector in Dubai ... is GCC staffbase and employ a further eight staff members ...
(Date:4/13/2015)... 2015 According to a ... Market Forecast & Opportunities, 2020", the global biometrics market ... 14% till 2020. The biometrics market is garnering ... and review of biometric management systems. The constant ... with greater efficiency, are resulting in increasing installation ...
(Date:4/8/2015)... , April 8, 2015  Infinisource, a ... and services, and Morpho, a leading supplier of ... to produce the market,s most advanced biometrically-enabled time ... iSolved NXG time clock is setting a bold, ... labor data for the small and mid-size employer. ...
Breaking Biology News(10 mins):Glenbeigh Records Management Wins Contract With Dubai Islamic Bank 2Glenbeigh Records Management Wins Contract With Dubai Islamic Bank 3Global Biometrics Market to Cross US$ 21 Billion by 2020: TechSci Research 2iSolved Time Clock Offers Unmatched Accuracy due to Morpho Biometrics 2iSolved Time Clock Offers Unmatched Accuracy due to Morpho Biometrics 3
... by the Duke-NUS Graduate Medical School (Duke-NUS) in Singapore ... key protein linked to stem cell-like behavior in terminal-stage ... drugs that may extend the survival of these patients. ... Proceedings of the National Academy of Sciences , ...
... to reduce by more than half the time it takes ... researchers in Penn State,s College of Agricultural Sciences. The finding ... foodborne illness, allowing epidemiological investigators to identify the exact strains ... more quickly find -- and eliminate -- the source of ...
... long been used for various purposes, like cleaning wastewater at ... handcrafted wickerwork, as means of nutrition and, in traditional medicine, ... Fraunhofer Institute for Building Physics IBP in Valley now want ... to wit, for the insulation of outer walls or ...
Cached Biology News:Singapore research team identifies new drug target in deadly form of leukemia 2Researchers develop a faster method to identify Salmonella strains 2Researchers develop a faster method to identify Salmonella strains 3Using cattails for insulation 2Using cattails for insulation 3
(Date:4/24/2015)... DryLet, LLC a biotechnology company ... as animal waste reduction, bioremediation, wastewater treatment, aquaculture ... treatment plants and restaurant kitchen settings, announced today ... Restaurant Association’s NRA Show 2015, in Chicago, Illinois ... company will be available to share information about ...
(Date:4/24/2015)... 2015 PAREXEL International Corporation (NASDAQ: PRXL ... that Partnerships in Clinical Trials named PAREXEL,s Drew ... Innovator of the Year.  The honor recognizes Mr. Garty,s ... Perceptive MyTrials ® Data-Driven Monitoring solution. ... 2015 Partnership Awards in Boston , ...
(Date:4/23/2015)... 2015 /CNW/ - A new and innovative service has ... North America,s largest packaging trade ... in the "Sustainability, service" category of the PAC ... Comparison" is a service that scores clients, packaging ... peers. This benchmarking process shows clients how their ...
(Date:4/23/2015)... San Jose, California (PRWEB) April 23, 2015 ... – Predictive diagnostics refer to a series of ... such as cystic fibrosis, Lou Gehrig's disease, Huntington's ... beneficial in examining the gene composition and interaction ... of the disease as well as the response ...
Breaking Biology Technology:DryLet to Showcase Bio-React at the National Restaurant Association’s NRA Show 2015 May 16-19, 2015 in Chicago, Illinois 2PAREXEL Honored With 2015 Clinical Innovator Of The Year Award From Partnerships In Clinical Trials 2PAREXEL Honored With 2015 Clinical Innovator Of The Year Award From Partnerships In Clinical Trials 3PAREXEL Honored With 2015 Clinical Innovator Of The Year Award From Partnerships In Clinical Trials 4PAREXEL Honored With 2015 Clinical Innovator Of The Year Award From Partnerships In Clinical Trials 5Increasing Disease Prevalence & Focus on Preventive Healthcare Drive the Predictive Diagnostics Market, According to a New Report by Global Industry Analysts, Inc. 2Increasing Disease Prevalence & Focus on Preventive Healthcare Drive the Predictive Diagnostics Market, According to a New Report by Global Industry Analysts, Inc. 3
... Scientists engaged in biological research and drug discovery are ... BioInformatics, LLC ( www.gene2drug.com ), the premier research ... released preliminary data from the company,s newest report ... Science Suppliers. In this report, we set out ...
... LOUIS, Feb. 11 Sigma-Aldrich, a leading Life,Science and High ... by 6% to $0.68 from $0.64 in the same quarter ... $510 million in the fourth quarter 2008 declined by 4%,compared ... fourth,quarter grew 3% from a year ago. Fourth quarter organic ...
... Development for Chronic Pain IndicationsLA JOLLA, Calif., Feb. ... TPTX ) today announced that oral administration of ... and well-tolerated in healthy male and female subjects ... successful completion of this Phase I trial demonstrating ...
Cached Biology Technology:Life Science Labs Reacting to the Economic Crisis 2Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 2Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 3Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 4Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 5Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 6Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 7Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 8Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 9Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 10Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 11Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 12Sigma-Aldrich (Nasdaq: SIAL) Reports Fourth Quarter Diluted EPS of $0.68. Ends 2008 With Record Sales and Earnings and Raises Quarterly Cash Dividend by 11.5%. Provides Outlook for 2009. 13First Multiple Dose Clinical Trial of TorreyPines Therapeutics' Oral Compound NGX426 Demonstrates Compound Is Safe and Well-Tolerated 2First Multiple Dose Clinical Trial of TorreyPines Therapeutics' Oral Compound NGX426 Demonstrates Compound Is Safe and Well-Tolerated 3First Multiple Dose Clinical Trial of TorreyPines Therapeutics' Oral Compound NGX426 Demonstrates Compound Is Safe and Well-Tolerated 4
... analysis kit for 25 chips provides the ... RNA analysis (at nanogram levels) with the ... 25 RNA StdSens microfluidic chips, 2 x ... microliters RNA StdSens stain, 2 x 20 ...
... 2-Methyl-3,5,7,8-tetrahydrothiopyrano[4,3-d]pyrimidine-4-one White solid. PROTECT ... brain-permeable and water soluble pyrimidinone compound that ... -competitive inhibitor of PARP (IC 50 ... rhPARP1 and rmPARP2, respectively) with little activity ...
... Building on the ease of use and flexibility ... BD Biosciences introduces the BDTM LSR II. The ... seen before in a benchtop analyzer. Free up ... require a UV laser to the BD LSR II. ...
... Opticon 2 real-time PCR detection system uses ... excitation (470-505 nm) and two photomultiplier tubes ... The Opticon 2 system is built on ... a thermal gradient feature. This item includes ...
Biology Products: