Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Wake Forest, Pittsburgh doctors find gene behind two kidney diseases

05.12.2002


Researchers at Wake Forest University Baptist Medical Center and the University of Pittsburgh report in the current Journal of Medical Genetics that they have found defects in the gene that produces a common protein in urine and that these defects are linked to two inherited kidney diseases.

For six years, the researchers had studied a family from Western North Carolina that has been plagued with a rare kidney disease, trying to learn more about the genetics of the disease. Anthony J. Bleyer, M.D., associate professor of internal medicine (nephrology) at Wake Forest, said the gene ordinarily produces a protein called either uromodulin or Tamm-Horsfall protein. Uromodulin is the most common protein released into the urine, but its function is unclear.

Bleyer said that Thomas C. Hart, D.D.S., Ph.D. of the University of Pittsburgh and formerly of Wake Forest, had identified mutations in the gene leading to defects in the protein. Defects in this protein led to a disease called familial juvenile hyperuricemic nephropathy in the North Carolina family and two other families. It also appears responsible for a disease called medullary cystic kidney disease Type 2 in another family.



"There had previously been a report speculating that these two conditions were in fact variations of the same disease," said Bleyer. "Our research has been able to prove that they are." "Finding the cause of the disease will allow family members to find out if they have the disease," he added. And before donating a kidney to a sibling, parent or child, family members can be tested to be sure they don’t harbor the disease.

The two diseases, which ultimately lead to irreversible kidney failure, are:

Familial juvenile hyperuricemic nephropathy which produces gout at an early age.
Medullary cystic kidney disease, which produces cysts in the middle of the kidney.

Bleyer said that doctors had known about the uromodulin protein for many years but they did not know its function. "The current study shows that uromodulin is likely important in reabsorbing water and salt in the kidney. It appears to act as a super-glue to prevent leaking in small tubes of the kidney."

But how that leads to kidney failure isn’t clear and will now become a research focus. "Now, not only our group but all the world’s experts in uromodulin will turn their attention to this disease," said Bleyer. "We are hoping that this will lead to improved treatment."

The Wake Forest team made repeated trips to see the family, develop a family tree and obtain genetic samples from a number of family members. From this information, the team found distant family members who knew they suffered from kidney disease, but did not know the cause.

"It was a wonderful experience to get to know this family," said Bleyer. "Though affected by a severe disease, they were always happy and willing to participate in the studies that needed to be done to identify the gene. This was true of all four families with which we worked."

Through contacts with other institutions, Bleyer collected information on three other families, and passed the genetic data on to Hart for analysis. Hart first showed the linkage of the disease to chromosome 16, the affected chromosome, a year ago.

The gene was somewhere in an unexplored area of chromosome 16. "Even the people who have mapped the human genome had not provided a detailed map of this area," Hart said.

When Hart found the gene, he confirmed mutations in the gene first in the North Carolina family and then in the three other families.

"This study shows what we do best at Wake Forest," he said. "We were able to use all our research capabilities to tackle a problem that has plagued a family for more than five generations."


###
Contact: Robert Conn (rconn@wfubmc.edu), Karen Richardson (krchrdsn@wfubmc.edu) or Barbara Hahn (bhahn@wfubmc.edu) at 336-716-4587.

Robert Conn | alfa
Further information:
http://www.wfubmc.edu/

More articles from Life Sciences:

nachricht 'Lipid asymmetry' plays key role in activating immune cells
20.02.2018 | Biophysical Society

nachricht New printing technique uses cells and molecules to recreate biological structures
20.02.2018 | Queen Mary University of London

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: In best circles: First integrated circuit from self-assembled polymer

For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.

In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

Im Focus: Hybrid optics bring color imaging using ultrathin metalenses into focus

For photographers and scientists, lenses are lifesavers. They reflect and refract light, making possible the imaging systems that drive discovery through the microscope and preserve history through cameras.

But today's glass-based lenses are bulky and resist miniaturization. Next-generation technologies, such as ultrathin cameras or tiny microscopes, require...

Im Focus: Stem cell divisions in the adult brain seen for the first time

Scientists from the University of Zurich have succeeded for the first time in tracking individual stem cells and their neuronal progeny over months within the intact adult brain. This study sheds light on how new neurons are produced throughout life.

The generation of new nerve cells was once thought to taper off at the end of embryonic development. However, recent research has shown that the adult brain...

Im Focus: Interference as a new method for cooling quantum devices

Theoretical physicists propose to use negative interference to control heat flow in quantum devices. Study published in Physical Review Letters

Quantum computer parts are sensitive and need to be cooled to very low temperatures. Their tiny size makes them particularly susceptible to a temperature...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

'Lipid asymmetry' plays key role in activating immune cells

20.02.2018 | Life Sciences

MRI technique differentiates benign breast lesions from malignancies

20.02.2018 | Medical Engineering

Major discovery in controlling quantum states of single atoms

20.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>