Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

RSRF-Funded Research Yields Novel Function for Rett Syndrome Gene

19.10.2005


Huda Zoghbi, of Baylor College of Medicine and the Howard Hughes Medical Institute and Juan Young, also of Baylor and colleagues report in the online Early Edition of the Proceedings of the National Academy of Science, posted the week of October 17, 2005, that the Rett Syndrome gene, MECP2, regulates RNA splicing. This work was funded in part by the Rett Syndrome Research Foundation (RSRF).



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.

RTT is caused by mutations in a gene (MECP2) that regulates expression of other genes. Genes are made up of long stretches of nucleotide bases that are divided into exons (sequences that code for protein) and introns (non-coding sequences). Genes make proteins in a multi-step process. The first, called transcription, takes place in the cell nucleus where DNA is copied into RNA. The second step involves cutting out the introns and pasting together the exons to make up the mature RNA. This RNA is then translated into proteins.


There is a wealth of data to suggest that MECP2 is a transcriptional repressor, meaning it turns off or down-regulates the production of other proteins by shutting down transcription. To date, a handful of MECP2 target genes have been identified.

The paradigm of one gene to one protein has recently given way to the realization that genes encode multiple proteins through a process called alternative splicing, whereby different combinations of exons are pasted together. Furthermore, genes can also have multiple functions. This phenomenon helps to explain why humans are so much more complex than worms or fruit flies, despite having similar numbers of genes.

Zoghbi and colleagues discovered that the MeCP2 protein is multifunctional. Beyond its role as a transcriptional repressor it also acts as a splicing regulator. In support of this finding Zoghbi and colleagues observed alternative splicing abnormalities in the mutant mouse model for RTT.

"The finding that MeCP2 functions in two steps of RNA processing, regulation of RNA levels and regulation of the variant molecules that can be generated from these RNAs is quite exciting. RNA splicing occurs extensively in the nervous system and is critical for many key neuronal functions. MeCP2’s role in this process might provide insight about RNA molecules whose altered splicing contributes to the diverse features of RTT and related disorders," stated Huda Zoghbi. "Once we discover the RNA changes responsible for various features of RTT, we can begin to explore pharmacologic targets to alleviate the symptoms of the disease."

"There was never a doubt that RTT is a complex disease. However, we now propose that its molecular etiology is also complex: MECP2, the gene mutated in RTT, encodes a protein involved in controlling not only the quantity, but also the quality of the protein repertoire of the cell. Thus, we believe that our findings should modify the framework for the identification of key players in RTT pathogenesis by adding mis-spliced genes to the challenge," said Juan Young, first author of the paper.

Since its inception in late 1999, RSRF has become the largest private source of funds for RTT research in the world. "Mutations in the MECP2 gene can lead not only to RTT but also to autism and a variety of other mental disorders. This newly discovered role of MECP2 might therefore hold broad implications for understanding these devastating disorders and point to much needed treatments," stated Monica Coenraads, co-founder and Director of Research for RSRF.

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

More articles from Life Sciences:

nachricht How brains surrender to sleep
23.06.2017 | IMP - Forschungsinstitut für Molekulare Pathologie GmbH

nachricht A new technique isolates neuronal activity during memory consolidation
22.06.2017 | Spanish National Research Council (CSIC)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Can we see monkeys from space? Emerging technologies to map biodiversity

An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.

Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...

Im Focus: Climate satellite: Tracking methane with robust laser technology

Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.

Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...

Im Focus: How protons move through a fuel cell

Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.

As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...

Im Focus: A unique data centre for cosmological simulations

Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.

With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...

Im Focus: Scientists develop molecular thermometer for contactless measurement using infrared light

Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine

Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Plants are networkers

19.06.2017 | Event News

Digital Survival Training for Executives

13.06.2017 | Event News

Global Learning Council Summit 2017

13.06.2017 | Event News

 
Latest News

Quantum thermometer or optical refrigerator?

23.06.2017 | Physics and Astronomy

A 100-year-old physics problem has been solved at EPFL

23.06.2017 | Physics and Astronomy

Equipping form with function

23.06.2017 | Information Technology

VideoLinks
B2B-VideoLinks
More VideoLinks >>>