Navigation Links
Research breakthrough hailed on the anniversary of gene discovery
Date:10/4/2010

(Cincinnati, OH) 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."


'/>"/>

Contact: Stephen Bajardi
sbajardi@rettsyndrome.org
203-722-6195
International Rett Syndrome Foundation
Source:Eurekalert

Related biology news :

1. Wistar Institute researcher receives New Innovator award from NIH
2. NC State researchers get to root of parasite genome
3. White Mountain Research Station to host climate change conference
4. Stevens awarded $1M for advanced biofuels research
5. Researchers find animal with ability to survive climate change
6. Researchers find an essential gene for forming ears of corn
7. Researchers note differences between people and animals on calorie restriction
8. Researcher working on destruction of chemical weapons
9. Researchers study acoustic communication in deep-sea fish
10. Researchers discover that growing up too fast may mean dying young in honey bees
11. The Rett Syndrome Research Trust launches operations
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/24/2017)... YORK , Jan. 24, 2017 ... study of the laboratory use of nuclear magnetic ... 363 experienced end-users and profiled current practices, developments, ... years, as well as growth and opportunities. These ... Instrument suppliers, NMR instruments, needs and innovation requirements, ...
(Date:1/21/2017)... Research and Markets has announced the addition of the ... ... voice recognition biometrics market to grow at a CAGR of 19.36% ... present scenario and the growth prospects of the global voice recognition ... considers the revenue generated from the sales of voice recognition biometrics ...
(Date:1/18/2017)... , Jan. 18, 2017  In vitro diagnostic (IVD) ... mergers and acquisitions (M&A), and Kalorama Information expects that ... acquisitions have been shifting. Generally, uncertainty in reimbursement and ... the U.S. has changed the acquisitions landscape. Instead of ... in companies buying partners outside of their home country ...
Breaking Biology News(10 mins):
(Date:2/20/2017)... ... February 20, 2017 , ... Cancer diagnostics ... Insight: Oncology™” (Crosswalk), a unique precision medicine knowledge visualization and decision support platform. ... through Inspirata’s diagnostic cockpit and is downloadable as an app for any mobile ...
(Date:2/20/2017)... (PRWEB) , ... February 20, ... ... improve therapeutic success among radiotherapy patients, prevent chest wall collapses in pre-term ... fracture alignments will receive a total of $600,000 in funding through the ...
(Date:2/20/2017)... , Feb. 20, 2017  Former NFL players who had ... functions later in life, according to a preliminary study released ... Neurology,s 69th Annual Meeting in Boston , ... are complex movements where the muscles and nerves work together, ... ...
(Date:2/20/2017)...  Atrius Health and IBM (NYSE: IBM ... to develop a cloud based service designed to ... view of the multiple influences on an individual,s ... be designed to support shared decision making between ... nonprofit healthcare organization with 875 physicians caring for ...
Breaking Biology Technology: