Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Fragile X and Down syndromes share signalling pathway for intellectual disability

06.08.2012
Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.

“We have shown for the first time that some of the proteins altered in Fragile X and Down syndromes are common molecular triggers of intellectual disability in both disorders,” said Kyung-Tai Min, one of the lead authors of the study and a professor at Indiana University and the Ulsan National Institute of Science and Technology in Korea.

“Specifically, two proteins interact with each other in a way that limits the formation of spines or protrusions on the surface of dendrites.” He added: “These outgrowths of the cell are essential for the formation of new contacts with other nerve cells and for the successful transmission of nerve signals. When the spines are impaired, information transfer is impeded and mental retardation takes hold.”

Intellectual disability is a developmental brain disorder that leads to impaired cognitive performance and mental retardation. Two of the most prevalent genetic causes of intellectual disability in humans are Fragile X and Down syndromes. Fragile X syndrome arises from a single gene mutation that prevents the synthesis of a protein required for neural development (Fragile X mental retardation protein). The presence of all or a part of a third copy of chromosome 21 in cells causes Down syndrome. Although both syndromes arise due to these fundamental genetic differences, the researchers identified a shared molecular pathway in mice that leads to intellectual disability for both disorders.

The mice that were used in the experiments are model systems for the study of Fragile X syndrome and Down syndrome. Down syndrome mice have difficulties with memory and brain function, and the formation of the heart is often compromised, symptoms that are also observed in humans with Down syndrome. Both model systems are very useful to scientists looking to dissect the molecular events that occur as the disorders take hold.

The scientists revealed that the Down syndrome critical region 1 protein (DSCR1) interacts with Fragile X mental retardation protein (FMRP) to regulate dendritic spine formation and local protein synthesis. By using specific antibodies that bind to the proteins as well as fluorescent labeling techniques they showed that DSCR1 specifically interacts with the phosphorylated form of FMRP. The overlapping molecular pathways of intellectual disability in both genetic disorders suggest that a common therapeutic approach might be feasible for both syndromes.

Min remarked: “We believe these experiments provide an important step forward in understanding the multiple roles of DSCR1 in neurons and in identifying a molecular interaction that is closely linked to intellectual disability for both syndromes.”

DSCR1 interacts with FMRP and is required for spine morphogenesis and local protein synthesis
Wei Wang, John Z. Zhu, Karen T. Chang, Kyung-Tai Min
Read the paper: doi:10.1038/emboj.2012.190

Further information on The EMBO Journal is available at
http://www.nature.com/emboj/index.html
Media Contacts
Barry Whyte
Head | Public Relations and Communications
Yvonne Kaul
Communications Offer
Tel: +49 6221 8891 108/111
communications@embo.org
About EMBO
EMBO stands for excellence in the life sciences. The organization enables the best science by supporting talented researchers, stimulating scientific exchange and advancing policies for a world-class European research environment.

EMBO is an organization of 1500 leading life scientist members that fosters new generations of researchers to produce world-class scientific results. EMBO helps young scientists to advance their research, promote their international reputations and ensure their mobility. Courses, workshops, conferences and scientific journals disseminate the latest research and offer training in cutting-edge techniques to maintain high standards of excellence in research practice. EMBO helps to shape science and research policy by seeking input and feedback from our community and by following closely the trends in science in Europe.

Barry Whyte | EMBO Press Office
Further information:
http://www.embo.org
http://www.nature.com/emboj/index.html

More articles from Life Sciences:

nachricht A study demonstrates that p38 protein regulates the formation of new blood vessels
17.07.2019 | Institute for Research in Biomedicine (IRB Barcelona)

nachricht For bacteria, the neighbors co-determine which cell dies first: The physiology of survival
17.07.2019 | Technische Universität München

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Megakaryocytes act as „bouncers“ restraining cell migration in the bone marrow

Scientists at the University Würzburg and University Hospital of Würzburg found that megakaryocytes act as “bouncers” and thus modulate bone marrow niche properties and cell migration dynamics. The study was published in July in the Journal “Haematologica”.

Hematopoiesis is the process of forming blood cells, which occurs predominantly in the bone marrow. The bone marrow produces all types of blood cells: red...

Im Focus: Artificial neural network resolves puzzles from condensed matter physics: Which is the perfect quantum theory?

For some phenomena in quantum many-body physics several competing theories exist. But which of them describes a quantum phenomenon best? A team of researchers from the Technical University of Munich (TUM) and Harvard University in the United States has now successfully deployed artificial neural networks for image analysis of quantum systems.

Is that a dog or a cat? Such a classification is a prime example of machine learning: artificial neural networks can be trained to analyze images by looking...

Im Focus: Extremely hard yet metallically conductive: Bayreuth researchers develop novel material with high-tech prospects

An international research group led by scientists from the University of Bayreuth has produced a previously unknown material: Rhenium nitride pernitride. Thanks to combining properties that were previously considered incompatible, it looks set to become highly attractive for technological applications. Indeed, it is a super-hard metallic conductor that can withstand extremely high pressures like a diamond. A process now developed in Bayreuth opens up the possibility of producing rhenium nitride pernitride and other technologically interesting materials in sufficiently large quantity for their properties characterisation. The new findings are presented in "Nature Communications".

The possibility of finding a compound that was metallically conductive, super-hard, and ultra-incompressible was long considered unlikely in science. It was...

Im Focus: Modelling leads to the optimum size for platinum fuel cell catalysts: Activity of fuel cell catalysts doubled

An interdisciplinary research team at the Technical University of Munich (TUM) has built platinum nanoparticles for catalysis in fuel cells: The new size-optimized catalysts are twice as good as the best process commercially available today.

Fuel cells may well replace batteries as the power source for electric cars. They consume hydrogen, a gas which could be produced for example using surplus...

Im Focus: The secret of mushroom colors

Mushrooms: Darker fruiting bodies in cold climates

The fly agaric with its red hat is perhaps the most evocative of the diverse and variously colored mushroom species. Hitherto, the purpose of these colors was...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on UV LED Technologies & Applications – ICULTA 2020 | Call for Abstracts

24.06.2019 | Event News

SEMANTiCS 2019 brings together industry leaders and data scientists in Karlsruhe

29.04.2019 | Event News

Revered mathematicians and computer scientists converge with 200 young researchers in Heidelberg!

17.04.2019 | Event News

 
Latest News

Tracking down climate change with radar eyes

17.07.2019 | Earth Sciences

Researchers build transistor-like gate for quantum information processing -- with qudits

17.07.2019 | Information Technology

A new material for the battery of the future, made in UCLouvain

17.07.2019 | Materials Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>