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 Solving the efficiency of Gram-negative bacteria
22.03.2019 | Harvard University

nachricht Bacteria bide their time when antibiotics attack
22.03.2019 | Rice University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: The taming of the light screw

DESY and MPSD scientists create high-order harmonics from solids with controlled polarization states, taking advantage of both crystal symmetry and attosecond electronic dynamics. The newly demonstrated technique might find intriguing applications in petahertz electronics and for spectroscopic studies of novel quantum materials.

The nonlinear process of high-order harmonic generation (HHG) in gases is one of the cornerstones of attosecond science (an attosecond is a billionth of a...

Im Focus: Magnetic micro-boats

Nano- and microtechnology are promising candidates not only for medical applications such as drug delivery but also for the creation of little robots or flexible integrated sensors. Scientists from the Max Planck Institute for Polymer Research (MPI-P) have created magnetic microparticles, with a newly developed method, that could pave the way for building micro-motors or guiding drugs in the human body to a target, like a tumor. The preparation of such structures as well as their remote-control can be regulated using magnetic fields and therefore can find application in an array of domains.

The magnetic properties of a material control how this material responds to the presence of a magnetic field. Iron oxide is the main component of rust but also...

Im Focus: Self-healing coating made of corn starch makes small scratches disappear through heat

Due to the special arrangement of its molecules, a new coating made of corn starch is able to repair small scratches by itself through heat: The cross-linking via ring-shaped molecules makes the material mobile, so that it compensates for the scratches and these disappear again.

Superficial micro-scratches on the car body or on other high-gloss surfaces are harmless, but annoying. Especially in the luxury segment such surfaces are...

Im Focus: Stellar cartography

The Potsdam Echelle Polarimetric and Spectroscopic Instrument (PEPSI) at the Large Binocular Telescope (LBT) in Arizona released its first image of the surface magnetic field of another star. In a paper in the European journal Astronomy & Astrophysics, the PEPSI team presents a Zeeman- Doppler-Image of the surface of the magnetically active star II Pegasi.

A special technique allows astronomers to resolve the surfaces of faraway stars. Those are otherwise only seen as point sources, even in the largest telescopes...

Im Focus: Heading towards a tsunami of light

Researchers at Chalmers University of Technology and the University of Gothenburg, Sweden, have proposed a way to create a completely new source of radiation. Ultra-intense light pulses consist of the motion of a single wave and can be described as a tsunami of light. The strong wave can be used to study interactions between matter and light in a unique way. Their research is now published in the scientific journal Physical Review Letters.

"This source of radiation lets us look at reality through a new angle - it is like twisting a mirror and discovering something completely different," says...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

International Modelica Conference with 330 visitors from 21 countries at OTH Regensburg

11.03.2019 | Event News

Selection Completed: 580 Young Scientists from 88 Countries at the Lindau Nobel Laureate Meeting

01.03.2019 | Event News

LightMAT 2019 – 3rd International Conference on Light Materials – Science and Technology

28.02.2019 | Event News

 
Latest News

Solving the efficiency of Gram-negative bacteria

22.03.2019 | Life Sciences

Bacteria bide their time when antibiotics attack

22.03.2019 | Life Sciences

Open source software helps researchers extract key insights from huge sensor datasets

22.03.2019 | Information Technology

VideoLinks
Science & Research
Overview of more VideoLinks >>>