HOME >> BIOLOGY >> NEWS
NIEHS study identifies gene for hydrocephalus in mice

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 sai
'"/>

Contact: Tom Hawkins
hawkins@niehs.nih.gov
919-541-1402
NIH/National Institute of Environmental Health Sciences
21-Aug-2003


Page: 1 2

Related biology news :

1. NIEHS/NTP Director Dr. Kenneth Olden receives Society of Toxicologys Public Communications Award
2. NIEHS and UNC to collaborate on registry of 20,000 subjects
3. NIEHS-funded researchers find low-level ozone increases respiratory risk of asthmatic children
4. NIEHS, NTP director receives honorary doctorate
5. Advisory panel on federal report on carcinogens makes recommendations to NIEHS/NTP for new listings
6. NIEHS urges safety workers to prepare for Y2K false alarms and malfunctions
7. NIEHS-cloned gene linked to a natural substance that reduces vascular inflammation, a key to arterial clogging
8. NIEHS And U.C. Davis Researchers Find Protein That May Be Key To Non-Hormonal Family Planning And Treatment Of Infertility
9. NIEHS Finds Protein That Counteracts Inflammation And Wasting That May Target Rheumatoid Arthritis And Crohns Disease
10. Three-Way Gene-Gene-Environmental Exposure Interaction Shown By NIEHS To Escalate Smoking-Related Bladder Cancer
11. Student science contest participation influences study, career choices, alumni say

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:5/16/2017)... , May 16, 2017   Bridge ... health organizations, and MD EMR Systems , ... development partner for GE, have established a partnership ... Portal product and the GE Centricity™ products, including ... EMR. These new integrations will ...
(Date:4/17/2017)... 17, 2017 NXT-ID, Inc. (NASDAQ: NXTD ... filing of its 2016 Annual Report on Form 10-K on Thursday ... ... available in the Investor Relations section of the Company,s website at ... website at http://www.sec.gov . 2016 Year Highlights: ...
(Date:4/11/2017)... 2017 No two people are believed ... New York University Tandon School of Engineering and ... that partial similarities between prints are common enough ... phones and other electronic devices can be more ... lies in the fact that fingerprint-based authentication systems ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... ... October 10, 2017 , ... For the second time in ... STEM Mentoring Award. Representatives of the FirstHand program travelled to Washington, D.C. Tuesday, ... , US2020’s mission is to change the trajectory of STEM education in America ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... business process optimization firm for the life sciences and healthcare industries, announces a ... in San Francisco. , The presentation, “Automating GxP Validation for Agile Cloud Platforms,” ...
(Date:10/9/2017)... N.C. (PRWEB) , ... October 09, 2017 , ... At ... announced Dr. Christopher Stubbs, a professor in Harvard University’s Departments of Physics and Astronomy, ... Stubbs was a member of the winning team for the 2015 Breakthrough Prize in ...
(Date:10/7/2017)... ... October 06, 2017 , ... Phase ... metagenome deconvolution product, featuring the first commercially available Hi-C kit. Researchers can ... Hi-C metagenome deconvolution using their own facilities, supplementing the company’s full-service ProxiMeta ...
Breaking Biology Technology:
Cached News: