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 Satellites, airport visibility readings shed light on troops' exposure to air pollution
09.12.2016 | Veterans Affairs Research Communications

nachricht Oxygen can wake up dormant bacteria for antibiotic attacks
08.12.2016 | Penn State

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: Electron highway inside crystal

Physicists of the University of Würzburg have made an astonishing discovery in a specific type of topological insulators. The effect is due to the structure of the materials used. The researchers have now published their work in the journal Science.

Topological insulators are currently the hot topic in physics according to the newspaper Neue Zürcher Zeitung. Only a few weeks ago, their importance was...

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Researchers identify potentially druggable mutant p53 proteins that promote cancer growth

09.12.2016 | Life Sciences

Scientists produce a new roadmap for guiding development & conservation in the Amazon

09.12.2016 | Ecology, The Environment and Conservation

Satellites, airport visibility readings shed light on troops' exposure to air pollution

09.12.2016 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>