Scientists create first animal model of Rett Syndrome

Researchers from the Whitehead Institute for Biomedical Research have created the long-awaited animal model for Rett syndrome, one of the most common causes of mental retardation in females with an incidence of 1 in 10,000-15,000. The transgenic mouse model sheds much-needed light on the underlying mechanism of the disease and suggests a new reason for hope in the research toward therapies.

Rett syndrome, caused by a defective gene on the X-chromosome, is thought to have a lethal effect in males before birth or shortly after. Girls with Rett syndrome (and two copies of the X chromosome) are healthy babies who develop normally until six to eighteen months old. But then something goes terribly wrongtheir health deteriorates and they begin to show symptoms such as loss of speech, loss of voluntary motor control, constant hand wringing, and seizures.

The work, published in the March 2001 issue of Nature Genetics from Rudolf Jaenisch and colleagues, suggests that the genetic defect underlying Rett syndrome has an effect not only during brain development before birth but has critical prolonged effects even after birth. Since it is easier to treat newborns than to correct defects in embryonic development, these findings may hold promise for future therapies.

In 1999, scientists from the Baylor College of Medicine in Houston, Texas, found that mutations in a gene called MECP2 were responsible for Rett syndrome. However, the exact mechanism by which mutated MECP2 brings about the mental deterioration was unknown.

The Jaenisch lab was able to use its expertise in transgenic technology to create mice in which the Mecp2 gene could be disrupted at any time during their development before or after birth. To the researchers surprise, male mice lacking Mecp2 did not die and showed a less severe syndrome. The male mice developed Rett-like symptoms, but survived to young adulthood, and females remained healthy well into adulthood. Similarities between the bra

Contact: Nadia Halim
Whitehead Institute for Biomedical Research

Page: 1 2

Related biology news :

1. Scientists to prototype cyberinfrastructure for research and education access to ocean observatories
2. Scientists sequence genome of kind of organism central to biospheres carbon cycle
3. Scientists find nanowires capable of detecting individual viruses
4. Scientists discover potential new way to control drug-resistant bacteria
5. Scientists explore genome of methane-breathing microbe
6. Scientists decipher genetic code of biothreat pathogen
7. Stuck on you: Scientists lay bare secrets of bacterial attachment proteins
8. Scientists discover proteins involved in spread of HIV-1 infection
9. Scientists fear new Ebola outbreak may explain sudden gorilla disappearance
10. Scientists reinvent DNA as template to produce organic molecules
11. Scientists visualise cellular handmaiden that restores shape to proteins

Post Your Comments:

(Date:7/19/2019)... ... , ... VetStem Biopharma has long been a leader in veterinary ... of a two-year research collaboration with Calidi Biotherapeutics, VetStem has signed a worldwide license ... VetStem should be able to fast-track this cancer therapy for use in dogs due ...
(Date:7/17/2019)... ... 15, 2019 , ... RCH Solutions (RCH), a ... companies, announces the availability of new specialty advisory practice, a Public Cloud Managed ... emerging bio-pharma companies interested in achieving specific outcomes related to public Cloud adoption. ...
(Date:7/10/2019)... FRANCISCO (PRWEB) , ... July 10, 2019 , ... ... Intelligent Virtual Agents for sales and service organizations, today announced its role ... experience and streamline the operational efficiency of its franchisees. A key part of ...
Breaking Biology News(10 mins):
(Date:6/11/2019)... ... June 11, 2019 , ... A ... mesenchymal stem cells (MSC-EV) are able to incorporate into human CD34+ cells, modifying ... on mice, MSC-EVs also increased the cells’ ability to lodge into bone marrow. ...
(Date:5/31/2019)... , ... May 30, 2019 , ... ... thinking on Data Integrity on July 08-09, 2019 in Boston, MA. This peer ... and medical device organizations. , The training will kick off with a compendial ...
(Date:5/21/2019)... (PRWEB) , ... May 21, 2019 , ... ... in Berlin (VLB) today officially opened the inaugural Africa Brewing Conference dedicated to ... malting industry in Africa. The event, which is supported through a partnership with ...
(Date:5/14/2019)... ... 14, 2019 , ... Gateway Genomics , a leading developer of prenatal ... to 5,000 square feet. , “This past year has seen exponential growth for ... CEO, Chris Jacob. “The SneakPeek At-Home test, which is mailed directly to our customers ...
Breaking Biology Technology:
Cached News: