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.
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 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.
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!
Zebrafish's near 360 degree UV-vision knocks stripes off Google Street View
22.06.2018 | University of Sussex
New cellular pathway helps explain how inflammation leads to artery disease
22.06.2018 | Cedars-Sinai Medical Center
In a recent publication in the renowned journal Optica, scientists of Leibniz-Institute of Photonic Technology (Leibniz IPHT) in Jena showed that they can accurately control the optical properties of liquid-core fiber lasers and therefore their spectral band width by temperature and pressure tuning.
Already last year, the researchers provided experimental proof of a new dynamic of hybrid solitons– temporally and spectrally stationary light waves resulting...
Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...
Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.
Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...
The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.
Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.
An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.
Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...
13.06.2018 | Event News
08.06.2018 | Event News
05.06.2018 | Event News
22.06.2018 | Materials Sciences
22.06.2018 | Earth Sciences
22.06.2018 | Life Sciences