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:3/22/2017)... Calif. , March 21, 2017 ... analytics company serving law enforcement agencies, announced today the ... as director of public safety business development. ... diversified law enforcement experience, including a focus on the ... In his most recent position, Mr. Sheridan served as ...
(Date:3/13/2017)... HAMBURG, Germany , March 13, 2017 Future of ... ... DERMALOGs Face Matching enables to match ... characteristics forms the basis to identify individuals. (PRNewsFoto/Dermalog Identification Systems) ... DERMALOG,s "Face Matching" is the fastest software for ...
(Date:3/7/2017)... CITY , March 7, 2017   HireVue ... help top global companies identify the best talent, faster, ... as Chief Sales Officer (CSO) and Diana Kucer ... appointments round out a seasoned executive team poised to drive ... beyond, building on a year of record bookings in ...
Breaking Biology News(10 mins):
(Date:4/27/2017)... ... 27, 2017 , ... Volunteers supported by SPIE, the ... industry professionals in visiting U.S. Congressional offices in Washington, D.C., yesterday to urge ... industry. , This year, National Photonics Initiative (NPI) Congressional Visits Day ...
(Date:4/26/2017)... ... April 26, 2017 , ... ... with NASA to showcase the future of deep space exploration and inspire space ... and Orion spacecraft and includes a guest appearance by former Shuttle Astronaut Don ...
(Date:4/26/2017)... ... April 26, 2017 , ... As the ... among healthcare industry stakeholders, the discussion surrounding the topic will continue at WEDI ... 2017 in Los Angeles, Calif. Hosted by the Workgroup for Electronic Data Interchange ...
(Date:4/25/2017)... 25, 2017 Providence ... its novel immune-modulating technology to an undisclosed global pharmaceutical ... Tregitopes, pronounced T·rej·itopes, are a set ... EpiVax CEO Annie De Groot and ... G, an autoimmune disease therapy, Tregitopes are capable ...
Breaking Biology Technology: