Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Research breakthrough hailed on the anniversary of gene discovery

05.10.2010
Team joins forces to prevent severe complication of Rett Syndrome

In a study published today in the Journal, Proceedings of the National Academy of Sciences, an international team of researchers based in the U.S. and UK revealed that they were able to halt the potentially lethal, breath holding episodes associated with the neurological disease Rett syndrome.

Rett syndrome is a disorder of the brain that affects around 1 in 10,000 young girls. On October 4, 1999, a groundbreaking study was published showing that the disease is caused by a spontaneous mutation in the gene methyl-CpG-binding protein 2 (MeCP2). The gene encodes a protein which acts as a "master switch" that is critical for controlling the expression of many other genes regulating the production of specific proteins in brain cells.

One of the more serious consequences of the disease is the intermittent episodes of breath holding, which can put individuals at risk for brain damage due to oxygen deprivation. The team led by Professor John Bissonnette, M.D., of Oregon Health and Science University, Portland OR and Professor Julian FR Paton, PhD, at the University of Bristol in the UK discovered a way to prevent the frequent episodes of breath holding in a mouse model of Rett syndrome using a unique combination of drugs.

Initially, the investigators' earlier work found that an area of the brain that allows breathing to persist throughout life, without interruption, has reduced levels of a vital transmitter substance called gamma-aminobutyric acid (GABA). The researchers took a two-pronged approach, using one set of drugs to increase the amount of GABA, and others to target a specific type of serotonin receptor to reduce activity in brain cells that normally depress inhalation. Both of these approaches halted the life threatening episodes of breathing arrests in Rett syndrome mice and confirmed the investigators' initial theory.

Dr. Bissonnette, co-principal investigator on the IRSF funded study commented, "When the phrenic nerve going to the diaphragm is silent, nerves going to muscles for expiration are excessively active. Building on our earlier studies that showed a defect in inhibition within the brain's respiratory areas, we reasoned that expiratory neurons were not receiving enough inhibition. When we boosted inhibition, or separately used a drug known to silence expiratory neurons, the pattern of breath holding was markedly improved." Dr. Bissonnette added, "While the specific drugs used in this mouse study are not available for human use, drugs with similar modes of action have been used in other conditions."

On Friday, the International Rett Syndrome Foundation (IRSF) announced $1.5M in funding for new research grants in 2010. IRSF announced continuing support for Drs. Bissonnette and Paton who will conduct follow-up studies to further investigate the pharmacological treatment of respiratory dysfunction in mouse models of Rett syndrome.

Commenting on the study, IRSF Chief Scientific Officer Dr. Antony Horton said, "The work of Drs. Bissonnette and Paton presents a powerful proof of concept which allows us to think of new ways to potentially treat this life-threatening complication of Rett syndrome. Their newly-funded studies, demonstrate our continued commitment towards advancing new therapeutic strategies to treat and ultimately reverse this devastating disease."

About Rett Syndrome Rett syndrome (RTT), a developmental neurological disorder, occurs almost exclusively in females. RTT results in severe movement and communication problems following apparently normal development for the first six to 18 months of life. Characteristic features of the disease include loss of speech and purposeful hand use, repetitive hand movements, abnormal walking, abnormal breathing, slowing in the rate of head growth and increased risk of seizures. Current treatment for girls with RTT includes physical and occupational therapy, speech therapy, and medication for seizures. There is no known cure for RTT. In 2007, researchers heralded a major breakthrough by reversing RTT symptoms in mouse models. RTT is considered a "Rosetta Stone" that is helping scientists understand multiple developmental neurological disorders, and shares genetic links with other conditions such as autism and schizophrenia.

About the International Rett Syndrome Foundation

IRSF is the world's leading private funder of basic, translational and clinical Rett syndrome research, funding over $23M in high-quality, peer-reviewed research grants and programs to date. Annually, IRSF hosts the world's largest gathering of global Rett researchers and clinicians to establish research direction and priorities while exchanging ideas and the most recent information. IRSF is the most comprehensive non-profit organization dedicated to providing thorough and accurate information about Rett syndrome, offering informational and emotional family support, and stimulating research aimed at accelerating treatments and a cure for Rett syndrome and related disorders. IRSF has earned Charity Navigator's most prestigious 4 star rating. To learn more about IRSF and Rett syndrome, visit www.rettsyndrome.org or call IRSF at 1-800-818-RETT (7388).

About Oregon Health and Science University

In 1887, the inaugural class of the University of Oregon Medical School met in the school's lone building - a two-room converted grocery store in northwest Portland. From that small school we have grown into a world-class teaching hospital and research center that draws in students, scientists, and patients from across the country and around the world. At the same time, we retain our strong commitment to serving our local community, and to treating each patient as a unique individual. With a rich diversity of activities happening across our campuses in and around Portland, we know that you can find what you are looking for - whether it is preparing yourself for a future as a health care provider, delving into critical research questions, or looking for a place where you can feel completely confident in the high quality of care you or a loved one receives. http://www.ohsu.edu

About the University of Bristol's Research and Enterprise Strategy

The University of Bristol's mission is "to pursue and share knowledge and understanding, both for their own sake and to help individuals and society fulfill their potential." This is underpinned by a vision where the University of Bristol is an international powerhouse of learning, discovery and enterprise, whose excellence is acknowledged locally, nationally and globally that is dedicated to academic achievement across a broad range of disciplines, and to continuous innovation and improvement. http://www.bris.ac.uk

Stephen Bajardi | EurekAlert!
Further information:
http://www.rettsyndrome.org

More articles from Life Sciences:

nachricht Symbiotic bacteria: from hitchhiker to beetle bodyguard
28.04.2017 | Johannes Gutenberg-Universität Mainz

nachricht Nose2Brain – Better Therapy for Multiple Sclerosis
28.04.2017 | Fraunhofer-Institut für Grenzflächen- und Bioverfahrenstechnik IGB

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Fighting drug resistant tuberculosis – InfectoGnostics meets MYCO-NET² partners in Peru

28.04.2017 | Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

 
Latest News

Wireless power can drive tiny electronic devices in the GI tract

28.04.2017 | Medical Engineering

Ice cave in Transylvania yields window into region's past

28.04.2017 | Earth Sciences

Nose2Brain – Better Therapy for Multiple Sclerosis

28.04.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>