Clues revealed to cause of deadly kidney disease in newborns

October 24, 2011

Babies 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 based on the use of ELVs," said Dr. Ward.

Explore further: Single gene controls development of many forms of polycystic disease

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

Related Stories

Could patients' own kidney cells cure kidney disease?

July 27, 2011

Approximately 60 million people across the globe have chronic kidney disease, and many will need dialysis or a transplant. Breakthrough research published in the Journal of the American Society Nephrology (JASN) indicates ...

Recommended for you

The 'love hormone' may quiet tinnitus

September 23, 2016

(HealthDay)—People suffering from chronic ringing in the ears—called tinnitus—may find some relief by spraying the hormone oxytocin in their nose, a small initial study by Brazilian researchers suggests.

Bile acid uptake inhibitor prevents NASH / fatty liver in mice

September 21, 2016

Drugs that interfere with bile acid recycling can prevent several aspects of NASH (nonalcoholic steatohepatitis) in mice fed a high-fat diet, scientists from Emory University School of Medicine and Children's Healthcare of ...

New therapeutic target for Crohn's disease

September 20, 2016

Research from the Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies a promising new target for future drugs to treat inflammatory bowel disease (IBD). The study, published today in Cell Reports, also indicates ...

Arthritis drug may help with type of hair loss

September 22, 2016

(HealthDay)—For people who suffer from a condition that causes disfiguring hair loss, a drug used for rheumatoid arthritis might regrow their hair, a new, small study suggests.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.