Clues revealed to cause of deadly kidney disease in newborns
October 24, 2011 in Diseases, Conditions, SyndromesBabies born with autosomal recessive polycystic kidney disease (ARPKD) often develop kidney failure because they have very large kidneys filled with tiny cysts. Even with excellent medical care, about 30% die shortly after birth. New research now provides clues into how gene defects may cause this condition, which occurs in 1 out of 20,000 newborns. The findings appear in an upcoming issue of the Journal of the American Society Nephrology (JASN), a publication of the American Society of Nephrology.
Mutations in a gene named PKHD1 cause ARPKD, but it's not clear how. Jason Bakeberg and Christopher Ward, ChB, PhD (Mayo Clinic) led a team that bred mice to have a small tag inserted into this gene. This tag allowed the researchers to follow the activities of the protein made by the gene, called fibrocystin.
"We found that small vesicles, termed exosome-like vesicles (ELVs), present in urine and other bodily fluids have abundant fibrocystin on their surface. This has allowed us to follow ELVs as they interact with primary cilia, or small hair-like structures that project into the urine from cells within the kidney's tubules," said Dr. Ward. "We believe that ELVs are involved in transporting a range of signals through urine and that ELV interactions with cilia are central to this signaling."
The findings may help investigators to understand how PKHD1 gene mutations cause ARPKD and to develop tests for the disease. "For example we are working on urine-based tests for polycystic kidney disease based on the use of ELVs," said Dr. Ward.
More information: The article, entitled "Epitope-tagged Pkhd1 Tracks the Processing, Secretion, and Localization of Fibrocystin," will appear online on Monday, October 24, 2011, doi:10.1681/ASN.2010111173
Provided by
American Society of Nephrology
-
Protein in the urine spells kidney failure for African-Americans
Aug 26, 2011 |
not rated yet |
0
-
Australian study sheds light on kidney repair and disease
Sep 30, 2009 |
not rated yet |
0
-
Researchers propose new ultrasound screening criteria for diagnosing polycystic kidney disease
Oct 22, 2008 |
not rated yet |
0
-
Single gene controls development of many forms of polycystic disease
Jun 19, 2011 |
not rated yet |
0
-
Could patients' own kidney cells cure kidney disease?
Jul 27, 2011 |
not rated yet |
0
-
Of mice and mental models: Neuroscientific implications of risk-optimized behavior in the mouse
May 25, 2012 |
not rated yet |
0
-
Limits to growth: Scientists identify key metastasis-enabling enzyme
May 22, 2012 |
5 / 5 (4) |
0
-
Seeing is as seeing does: Spatially-structured retinal input in early development of cortical maps
Apr 26, 2012 |
5 / 5 (4) |
1
-
Dreamless nights: Brain activity during nonrapid eye movement sleep
Apr 09, 2012 |
4.4 / 5 (12) |
0
-
Take your time: Neurobiology sheds light on the superiority of spaced vs. massed learning
Mar 28, 2012 |
4.5 / 5 (21) |
3
-
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011
- More from Physics Forums - Independent Research
More news stories
Flesh-Eating bacteria no cause for panic, experts say
(HealthDay) -- Despite scary headlines by the score, most people don't have to fear that they'll be the next victim of the so-called flesh-eating bacteria disease, experts say.
Diseases, Conditions, Syndromes
19 hours ago |
not rated yet |
0
World Health Assembly endorses new plan to increase global access to vaccines
Ministers of Health from 194 countries at the Sixty-fifth World Health Assembly today endorsed a landmark Global Vaccine Action Plan (GVAP), a roadmap to prevent millions of deaths by 2020 through more equitable access to ...
Diseases, Conditions, Syndromes
22 hours ago |
not rated yet |
0
Physicians definitively links irritable bowel syndrome and bacteria in gut
An overgrowth of bacteria in the gut has been definitively linked to Irritable Bowel Syndrome in the results of a new Cedars-Sinai study which used cultures from the small intestine. This is the first study to use this "gold ...
Diseases, Conditions, Syndromes
23 hours ago |
not rated yet |
0
|
Study provides compelling evidence for an effective new treatment for tinnitus
According to new research, a multidisciplinary approach to treating tinnitus that combines cognitive behaviour therapy with sound-based tinnitus retraining therapy is significantly more effective than currently available ...
Diseases, Conditions, Syndromes
May 24, 2012 |
not rated yet |
0
Infections may be deadly for many dialysis patients
An infection called peritonitis commonly arises in the weeks before many dialysis patients die, according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology (JASN). The findings sugges ...
Diseases, Conditions, Syndromes
May 24, 2012 |
not rated yet |
0
Family history of Alzheimer's affects functional connectivity
(HealthDay) -- Cognitively normal individuals with a family history of late-onset Alzheimer's disease (AD) may display lower resting state functional connectivity in the default mode network (DMN) of the brain, ...
Travel to high altitudes tied to Crohn's, colitis flare-ups
(HealthDay) -- People with inflammatory bowel disease, which includes Crohn's disease and colitis, may be at increased risk for flare-ups when they fly or travel to high altitudes for skiing or mountain climbing, ...
Transvaginal mesh op restores pelvic organ prolapse at price
(HealthDay) -- Transvaginal mesh (TVM) procedures are effective for anatomical restoration of pelvic organ prolapse (POP), but patients report a worsening of sexual function following surgery, according to ...
Cancer may require simpler genetic mutations than previously thought
Chromosomal deletions in DNA often involve just one of two gene copies inherited from either parent. But scientists haven't known how a deletion in one gene from one parent, called a "hemizygous" deletion, can contribute ...
Inherited DNA change explains overactive leukemia gene
A small inherited change in DNA is largely responsible for overactivating a gene linked to poor treatment response in people with acute leukemia.
Tongue analysis software uses ancient Chinese medicine to warn of disease
For 5,000 years, the Chinese have used a system of medicine based on the flow and balance of positive and negative energies in the body. In this system, the appearance of the tongue is one of the measures used to classify ...
