Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

‘Dark genome’ is involved in Rett Syndrome

03.05.2013
The disease is the second most common cause of mental retardation in women

Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding long chain RNA sequences (lncRNA) in Rett syndrome.

These molecules act as supervisor agents responsible of 'switch on' or 'switch off' other genes in our genome that regulate the activity of neurons. The work has been published in the last issue of the journal RNA Biology.

Dark genome

Only 5% of our genetic material are genes that encode proteins. The remaining 95% is known as dark genome or non-coding DNA and its function is still unknown. Part of this DNA produces RNA molecules called noncoding long chain RNA (lncRNAs).

Rett Syndrome

Rett syndrome is a neurodevelopmental disease and it is the second most common cause of mental retardation in females after Down syndrome. Clinical symptoms occur between 6 and 18 months after birth and consist of a loss of cognitive, social and motor capacities accompanied by autistic behaviors, eg, stereotypic hand movements.

Today there is no effective treatment of the disease but the control of their symptoms. The syndrome is usually due to the presence of a mutation in MeCP2 epigenetic gene that, as a magnet, regulates the expression of many other genes of the cell.

Esteller's team works with a mouse model that faithfully reproduces the characteristics of the human Rett syndrome. In this study, researchers compared the expression of long chains of RNA in healthy and diseased animals and found that the presence of mutations in the Mecp2 gene causes alterations in the activity of lncRNA.

One such altered lncARN regulates the function of a key neurotransmitter in the nervous system in all vertebrates brain (GABA receptor). "Its alteration", says Esteller, "could explain the defects of communication between neurons in girls affected by Rett Syndrome."

According to Manel Esteller "this finding, in addition to increasing knowledge about the causes of the disease, could open the door to new therapeutic strategies that target lncRNA molecules or GABA receptor."

The study was supported by the Department of Health of the Generalitat de Catalunya, the Catalan Institute of Advanced Studies (ICREA), the Spanish Ministry of Health (E-RARE), the European Project EPINORC DISCHROM and the Fondation Lejeune (France) and the Catalan Association Rett Syndrome.

Article reference

Petazzi P., Sandoval J., Szczesna K., Jorge O.C., Roa L., Sayols S., Gomez A., Huertas D. and Esteller M. Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model. RNA Biology, 10(7), 2013.

Arantxa Mena | EurekAlert!
Further information:
http://www.idibell.cat

More articles from Life Sciences:

nachricht Warming ponds could accelerate climate change
21.02.2017 | University of Exeter

nachricht An alternative to opioids? Compound from marine snail is potent pain reliever
21.02.2017 | University of Utah

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Impacts of mass coral die-off on Indian Ocean reefs revealed

21.02.2017 | Earth Sciences

Novel breast tomosynthesis technique reduces screening recall rate

21.02.2017 | Medical Engineering

Use your Voice – and Smart Homes will “LISTEN”

21.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>