Navigation Links
Mutant gene causes severe kidney disease in infants

ns leaking out from the glomerulus are excreted in urine, and body tissues retain too much water, which causes swelling around the eyes and throughout the body.

Some types of nephrotic syndrome can be treated with steroids or other drugs, but steroid-resistant forms of the disease as a rule do not respond to treatment. Untreated nephrotic syndrome often causes severe scarring and a condition called focal segmental glomerulosclerosis (FSGS), which progresses about 50 percent of the time to end-stage kidney disease and renal failure.

PLCE1 is the seventh gene scientists have found to be involved in different types of steroid-resistant nephrotic syndrome, and the second gene that is expressed in podocytes ?specialized cells with octopus-like tentacles surrounding the glomerulus.

Podocytes are currently under intensive study, because scientists believe they play a vital role in the blood filtration process. Identifying genes and proteins that are active in podocytes will help scientists understand how they work.

"We found that PLCE1 is expressed in developing and mature podocytes," says Hildebrandt. "Most of the PLCE1 mutations we identified apparently prevented podocytes from developing normally in the embryo, so defects were present at birth. A milder mutation seemed to interfere with repair mechanisms in the glomerulus, so defects didn't show up until later in life."

U-M scientists used DNA microarrays to analyze blood samples from 26 families around the world who had children diagnosed with steroid-resistant nephrotic syndrome. After eliminating known mutations, the study team was left with DNA from 12 children with the disease. All 12 had inherited recessive mutations in PLCE1 from both parents. None of the seven different PLCE1 mutations were present in the 138 control subjects in the study.

All 12 children developed symptoms of nephrotic syndrome before age four. Five children progressed to end-stage re
'"/>

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:4/17/2014)... One day about eight years ago, Katia Silvera ... and her father were on a field trip in a ... orchid they had never seen before. , Unable to identify ... The orchid turned out to be an unnamed species. ... silverarum . , "Lophiaris" is the genus name, comprising about ...
(Date:4/17/2014)... in Europe, Asia and the United States are spreading ... impacting native honeybee populations at this time, according to ... including Nosema microsporidia and Varroa ... to these invasive pests, which suggests to us that ... and the United States currently are not necessary in ...
(Date:4/17/2014)... serious conditions such as heart disease, epilepsy and pain, ... Unfortunately, there is still much scientists do not know ... unexpected insight into the structure of sodium channels and, ... which are responsible for ,fine-tuning, the activity of the ... edition of the Journal of Biological Chemistry . ...
Breaking Biology News(10 mins):Orchid named after UC Riverside researcher 2Orchid named after UC Riverside researcher 3East African honeybees are safe from invasive pests… for now 2East African honeybees are safe from invasive pests… for now 3Structure of sodium channels different than previously believed 2
... slam the Gulf Coast, and even reason to believe such ... we handle them will be the primary topic of discussion ... Climate Impact in the Gulf Coast Conference Oct. 29-31. , ... Evacuation from Disaster Center, primary sponsor of the conference. Rice ...
... professor and head of the Computational Neurobiology Laboratory at ... of Medicine, the IOM has announced. Election to the ... the fields of health and medicine and recognizes individuals ... service. "It is a great ...
... deaths worldwide, and particularly a common killer of weaker, ... non-specific, but researchers have now identified potential biomarkers in ... of infection and type of microbe. The ... activity, so Stephen Kingsmore and colleagues analyzed plasma samples ...
Cached Biology News:Weather woes emphasize need for SSPEED 2Salk researcher Terry Sejnowski elected to Institute of Medicine 2
(Date:1/14/2014)... 2014 Date: Friday, April 11, 2014 , ... Club, 1360 Almshouse Road, Warrington, Pa. , Details: ... dedicated to finding a cure for hepatitis B and improving ... its annual Crystal Ball on Friday, April 11 at Warrington ...
(Date:1/14/2014)... January 14, 2014 Histogen, Inc., a ... of cells grown under simulated embryonic conditions, today announced ... with Suneva Medical, Inc. for physician-dispensed aesthetic products containing ... , This agreement is an amendment to the existing ...
(Date:1/14/2014)... , Jan. 14, 2014 As pet owners drew up ... many of them wrote: "Take better care of my furry companion." ... designer clothes and top-brand carrying cases to take the little canine ... might also feel compelled to buy some pricey toys at the ...
(Date:1/14/2014)... The largest international professional organization of scientists ... derivatives thereof has endorsed an educational program that ... challenges of adulterated herb and botanical products. ... The Society for Medicinal Plant and Natural Product ...
Breaking Biology Technology:Hepatitis B Foundation to Host Annual Crystal Ball Gala 2Histogen and Suneva Medical Expand License for Cell Conditioned Media-based Aesthetic Products Internationally 2Histogen and Suneva Medical Expand License for Cell Conditioned Media-based Aesthetic Products Internationally 3New Year's Resolution: Give Pets the Gift of Top-Notch Health Care 2World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 2World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 3World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 4World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 5World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 6World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 7World's Largest Group of Medicinal Plant Researchers Endorses ABC-AHP-NCNPR Botanical Adulterants Program 8
... Editor's note: Richard Thieme's new book, Islands ... on the digital world. Released in May, Thieme's book has ... his ability to explore the world of technology and present ... , As Andrew Briney, editor in chief of Information Security ...
... is good ink and if you believe that name and brand ... couple minutes a month to Google yourself. , ,I ... folder in my office and an electronic folder on my hard ... dont contain what people heard or where they heard it. , ...
... note: Richard Thieme's new book, Islands in the ... the digital world. WTN will be reprinting excerpts from selected ... the month. This week features an excerpt from chapter four, ... enjoy these samples of Thieme's writings. , , Hactivism ...
Cached Biology Technology:Technology isn't about technology 2Technology isn't about technology 3Technology isn't about technology 4Learning how far your message reaches by Googling yourself 2Learning how far your message reaches by Googling yourself 3Learning how far your message reaches by Googling yourself 4Islands in the Clickstream: Hactivism and Soul Power 2Islands in the Clickstream: Hactivism and Soul Power 3Islands in the Clickstream: Hactivism and Soul Power 4
Caliper offers a wide array of standard LabChip products designed to be used in combination with our AMS 90 and LabChip 3000 microfluidic platforms....
... Experion Pro260 analysis kit for 10 chips ... perform protein analysis with the Experion automated ... microfluidic chips, 3 x 520 microliters Pro260 ... Pro260 ladder (10-260 kD), 400 microliters Pro260 ...
... made the original Gene Pulser apparatus and accessory ... been applied in the Gene Pulser II system, ... of the Gene Pulser II system has the ... the widest range of settings to target specific ...
Experion Pro260 chips are the microfluidic chips used to perform protein analysis with the Experion automated electrophoresis system. Each chip has the capacity to run 10 protein samples. Supplied as...
Biology Products: