Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Mayo collaboration identifies gene in childhood kidney disease

18.01.2006


New insight into related disorders

An international research collaboration led by Mayo Clinic has identified a new gene involved in causing the inherited kidney disorder, Meckel-Gruber syndrome (MKS). Children with MKS have central nervous system deformities as well as abnormal cysts in their kidneys, and usually die shortly after birth. The findings appear in the current edition of Nature Genetics (http://www.nature.com/ng/index.html). In addition to Mayo Clinic, the collaboration involved researchers from the Indiana University School of Medicine in Indianapolis, and the University of Birmingham, England.

Significance of the Finding



This news is of immediate importance to MKS families who may now have their blood screened for the defect and seek genetic counseling. The finding also is important for advancing understanding of what goes wrong in common birth defects, such as neural tube defects, as well as for related disorders such as more common forms of polycystic kidney disease (PKD). PKD accounts for more than 5 percent of end-stage kidney disease in the United States and Europe.

"This gene has immediate relevance for a small number of families, but the broader implications are important for the understanding they bring of how cysts develop in the kidney," explains Peter Harris, Ph.D., the Mayo Clinic nephrology researcher who led the research team. "There is a kind of common linkage among these diseases. Our hope is that this new finding will aid us to devise new treatments for a broad category of disabling disease."

Meckel-Gruber kidney disease is separate from, though related to, PKD in that some of the same things go wrong to cause the abnormal formation of cysts that disrupt kidney function. Knowing the identity of one key gene involved in MKS is a first step to understanding the disorder and eventually devising therapies to blunt its effects. Treatments are being developed for the more common forms of polycystic kidney disease.

The current work is an extension of Mayo researchers’ groundbreaking work for more than a decade that has helped to reveal the genetic basis of PKD and to develop therapies. In that time, Mayo researchers have identified key genes driving the most common form of the disease in adults and in infants.

Method: From Rat to Humans

The research collaboration brought together Mayo’s expertise in polycystic disease genetics with an animal model characterized in Indiana: a rat that mimicked PKD but that also showed symptoms of abnormal brain development. These clinical characteristics linked to a gene made this a useful model for an atypical form of PKD. The researchers identified the neighborhood in the model’s genome where the error likely occurred, ultimately finding one gene that was defective. They then looked at the same neighborhood in the human genome for evidence of a disease with symptoms similar to the model (the bottom of chromosome 8) and found Meckel-Gruber syndrome type 3 (MKS3). Screening the corresponding gene, they identified similar changes in the MKS3 patients (characterized by the Birmingham group) and identified the disease gene.

Robert Nellis | EurekAlert!
Further information:
http://www.mayo.edu
http://www.nature.com/ng/index.html

More articles from Life Sciences:

nachricht New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg

nachricht Stingless bees have their nests protected by soldiers
24.02.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>