Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Introduction of the ’Rett protein’ in post-mitotic neurons rescues Rett Syndrome in mice

08.04.2004


Rudolf Jaenisch of the Whitehead Institute of Biomedical Research in Cambridge, MA reports in the April 6, 2004 online issue of the Proceedings of the National Academy of Sciences that introduction of the MeCP2 protein into post-mitotic nerve cells of MeCP2 mutant mice rescues the symptoms of Rett Syndrome. This raises the possibility that neurons are functionally normal in a newborn child and that neural dysfunction manifests itself only later due to prolonged MeCP2 deficiency. If correct, therapeutic strategies aimed at preventing the onset of Rett symptoms could be initiated at birth. This project was funded by the Rett Syndrome Research Foundation (RSRF) and the National Institutes of Health (NIH).



Rett Syndrome (RTT) is a severe neurological disorder diagnosed almost exclusively in girls. Children with RTT appear to develop normally until 6 to 18 months of age, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.

In late 1999 it was discovered that mutations in the gene MECP2 were the leading cause of Rett Syndrome. The gene product, MeCP2, is a protein believed to play a vital role in the regulation of gene expression. It is expressed in all organs and found in especially high levels in the brain. The timing of MeCP2 activation coincides with the maturation of the central nervous system and recent reports suggest that MeCP2 may be involved in the formation of contacts between nerve cells and may function in activity-dependent gene expression (i.e. learning). Multiple labs have shown that selective mutation of MeCP2 in nerve cells after birth leads to Rett-like symptoms in mice, suggesting that MeCP2 plays an important role in mature nerve cells.


Dr. Jaenisch devised an experiment to determine the point at which nerve cells become dysfunctional in "Rett mice". Early in embryonic development precursor neuronal cells divide rapidly. As the brain cells mature they stop dividing and become post-mitotic. Dr. Jaenisch hooked the MECP2 gene to the Tau gene which is expressed only in post-mitotic neurons. Mutant Mecp2 mice that also expressed the Tau/Mecp2 transgene never manifested any of the Rett-like symptoms and developed normally.

The experiments also showed that introducing too much MeCP2, 4-6 fold, caused severe motor deficits. This will be an important issue as treatments are developed.

"These experiments lay the groundwork for the next key project: determining whether Rett Syndrome is reversible and if so identifying the appropriate time frame for MeCP2 re-introduction." shared Dr. Jaenisch.

"The announcement by Dr. Jaenisch and his colleagues is an important step towards realizing our mission of accelerating treatments and cures for Rett Syndrome. RSRF has financially supported Dr. Jaenisch’s work since our inception and we are encouraged by the contributions he is making to the field", stated Gordy Rich, Chairman of the RSRF Board of Trustees.

Monica Coenraads | EurekAlert!
Further information:
http://www.rsrf.org

More articles from Life Sciences:

nachricht New procedure enables cultivation of human brain sections in the petri dish
19.10.2017 | Hertie-Institut für klinische Hirnforschung (HIH)

nachricht The “everywhere” protein: honour for the unravellor of its biology
19.10.2017 | Boehringer Ingelheim Stiftung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Osaka university researchers make the slipperiest surfaces adhesive

18.10.2017 | Materials Sciences

Space radiation won't stop NASA's human exploration

18.10.2017 | Physics and Astronomy

Los Alamos researchers and supercomputers help interpret the latest LIGO findings

18.10.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>