Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

NIEHS study identifies gene for hydrocephalus in mice

22.08.2003


Scientists at the National Institute of Environmental Health Sciences have identified a gene called RFX4 that is responsible for the birth defect hydrocephalus in mice. Loss of a single copy of this gene in mice leads to a failure of drainage of cerebrospinal fluid from the brain cavity, which causes the skull to swell.



About one child in 2,000 worldwide is afflicted by hydrocephalus. Identification of the mouse gene provides a means for researchers to study the possible genetic origins of this common birth defect in humans.

The gene was discovered when researchers noticed that pups in one line of transgenic mice from a completely different study developed head swelling and neurological abnormalities shortly after birth. The NIEHS research team then cloned the defective gene and found that it was responsible for development of a critical structure in the brain that controls cerebrospinal fluid drainage. All of the mice with the defective gene developed the classic symptoms of hydrocephalus, whereas none of the littermates with the normal gene developed this condition. Although the head-swelling led to rapid neurological deterioration and death in many of the transgenic animals, a number have survived to reproduce and propagate the line.


"Animal models of human diseases are often an invaluable tool for studying the underlying causes of a disease, in this case a severe and common birth defect," Darryl C. Zeldin, M.D., one of the authors of the study said. "Identifying the genetic sources of this birth defect in mice may lead to the development of better treatment or prevention of hydrocephalus in humans."

Dr. Zeldin points out that this study is based on the discovery of the mouse gene and its relationship to development of hydrocephalus in mice. The study also describes the cloning of the human homolog of this gene, but the authors cannot say this gene is associated with hydrocephalus in humans yet.

Dr. Zeldin said, "The RFX gene may or may not be associated with hydrocephalus in humans, but that is where we are going in the future with this project. There are likely many causes for hydrocephalus in humans, both genetic and environmental."

"RFX4 belongs to a family of proteins called transcription factors that control expression of other genes," said Perry J. Blackshear, M.D., D.Phil., a co-author of the study. "Identifying exactly which genes are controlled by RFX4 will be an important next step."

The NIEHS researchers have already begun to look for common defects in the RFX4 gene in humans with hydrocephalus. The ultimate goal of these studies will be to develop screening assays to identify this defect so that patients can be counseled appropriately.

The study appears online at http://dev.biologists.org/ on the web site of the scientific journal Development, and will appear in an upcoming print issue. The study is authored by Perry J. Blackshear, M.D., D.Phil. (NIEHS), Joan P. Graves (NIEHS), Deborah J. Stumpo, Ph.D. (NIEHS), Inma Cobos, Ph.D. (University of California at San Francisco), John L.R. Rubenstein, M.D., Ph.D. (University of California at San Francisco) and Darryl C. Zeldin, M.D. (NIEHS).


###
For further information on the study, contact either Dr. Zeldin at 919-541-1169 or Dr. Blackshear at 919-541-4899.


Tom Hawkins | EurekAlert!
Further information:
http://www.niehs.nih.gov/

More articles from Health and Medicine:

nachricht Microgel powder fights infection and helps wounds heal
14.11.2018 | Michigan Technological University

nachricht Spread of deadly eye cancer halted in cells and animals
13.11.2018 | Johns Hopkins Medicine

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

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

Im Focus: A Chip with Blood Vessels

Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.

Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...

Im Focus: A Leap Into Quantum Technology

Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.

In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...

Im Focus: Research icebreaker Polarstern begins the Antarctic season

What does it look like below the ice shelf of the calved massive iceberg A68?

On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.

Im Focus: Penn engineers develop ultrathin, ultralight 'nanocardboard'

When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure

Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...

Im Focus: Coping with errors in the quantum age

Physicists at ETH Zurich demonstrate how errors that occur during the manipulation of quantum system can be monitored and corrected on the fly

The field of quantum computation has seen tremendous progress in recent years. Bit by bit, quantum devices start to challenge conventional computers, at least...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

“3rd Conference on Laser Polishing – LaP 2018” Attracts International Experts and Users

09.11.2018 | Event News

On the brain’s ability to find the right direction

06.11.2018 | Event News

European Space Talks: Weltraumschrott – eine Gefahr für die Gesellschaft?

23.10.2018 | Event News

 
Latest News

Massive impact crater from a kilometer-wide iron meteorite discovered in Greenland

15.11.2018 | Earth Sciences

When electric fields make spins swirl

15.11.2018 | Physics and Astronomy

Discovery of a cool super-Earth

15.11.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>