Navigation Links
Research breakthrough hailed on the anniversary of gene discovery

(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
International Rett Syndrome Foundation

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 $1M for advanced biofuels research
5. Researchers find animal with ability to survive climate change
6. Researchers find an essential gene for forming ears of corn
7. Researchers note differences between people and animals on calorie restriction
8. Researcher working on destruction of chemical weapons
9. Researchers study acoustic communication in deep-sea fish
10. Researchers discover that growing up too fast may mean dying young in honey bees
11. The Rett Syndrome Research Trust launches operations
Post Your Comments:
(Date:11/12/2015)... , Nov. 11, 2015   Growing ... reliable analytical tools has been paving the way ... qualitative determination of discrete analytes in clinical, agricultural, ... are being predominantly used in medical applications, however, ... environmental sectors due to continuous emphasis on improving ...
(Date:11/10/2015)... , Nov. 10, 2015 ... biometrics that helps to identify and verify the ... is considered as the secure and accurate method ... of a particular individual because each individual,s signature ... results especially when dynamic signature of an individual ...
(Date:11/4/2015)... York , November 4, 2015 ... a new market report published by Transparency Market Research "Home ... Growth, Trends and Forecast 2015 - 2022", the global home ... US$ 30.3 bn by 2022. The market is estimated ... forecast period from 2015 to 2022. Rising security needs ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... ... 25, 2015 , ... A long-standing partnership between the Academy ... been formalized with the signing of a Memorandum of Understanding. , AMA Executive ... Karl Minter and Capt. Albert Glenn Tuesday, November 24, 2015, at AMA Headquarters ...
(Date:11/24/2015)... (PRWEB) , ... November 24, 2015 , ... The United ... recipient of the 2016 USGA Green Section Award. Presented annually since 1961, the USGA ... his or her work with turfgrass. , Clarke, of Iselin, N.J., is ...
(Date:11/24/2015)... , ... November 24, 2015 , ... ... of the year and one of the premier annual events for pharmaceutical manufacturing: ... from 8–11 November 2015, where ISPE hosted the largest number of attendees in ...
(Date:11/24/2015)... ... November 24, 2015 , ... The Academy of Model Aeronautics (AMA), led ... also known as Multirotor Grand Prix, to represent the First–Person View (FPV) racing community. ... members have embraced this type of racing and several new model aviation pilots have ...
Breaking Biology Technology: