Navigation Links
Developmental disease is recreated in an adult model
Date:6/2/2011

(Cincinnati, OH) An IRSF funded study published today in the journal Science has shown that the childhood disorder Rett syndrome, can be reestablished in adult animals by "switching off" a critical disease causing gene in healthy adult animals. The gene was "switched off" in adult mice by use of a sophisticated genetic trick, resulting in the appearance of behaviors typically seen in Rett syndrome. The leading author Christopher McGraw, MD/PhD student, carried out the study in the laboratory of Dr. Huda Zoghbi, a renowned neuroscientist based at Baylor College of Medicine, and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital in Houston TX.

In 1999 Dr. Zoghbi's laboratory made a central discovery, identifying the causative link between mutations in the gene methyl-CpG-binding protein 2 (MeCP2) and Rett syndrome. This work led to other studies showing that MeCP2 protein is critical for the proper functioning of nerve cells during development and into adulthood. In 2007 a further study conducted by Dr. Adrian Bird, at Edinburgh University in the UK, showed the neurological symptoms of Rett syndrome can be reversed by reactivating MeCP2 in an adult mouse where the disease is already established. This work provided a critical proof of concept that symptoms of the disorder may be reversible in humans; however, to-date it was not known whether the early developmental period was important in establishing the course of the disease. This new study argues that early expression of the gene does not protect against the development of symptoms if the disease gene is later inactivated.

Commenting on the study, Dr. Zoghbi said "We did this experiment to see if providing MeCP2 early on in life, during critical periods of brain maturation, would be partially protective from loss of this protein in the adult brain. We were surprised to see that the nervous system had no detectable protection when MeCP2 was lost in adulthood. This affirmed that brain cells must have MeCP2 at all times to function normally."

There have been no effective pharmacological treatments developed to treat the disorder although new therapeutic trials are currently underway. This work suggests that therapies for Rett syndrome may need to be continuously maintained throughout the course of an individual's life.


'/>"/>

Contact: Steve Bajardi
sbajardi@rettsyndrome.org
513-874-3020
International Rett Syndrome Foundation
Source:Eurekalert

Related biology news :

1. Digital zebrafish embryo provides the first complete developmental blueprint of a vertebrate
2. Carnegies Donald Brown receives lifetime achievement award from Society for Developmental Biology
3. Mouse model provides a new tool for investigators of human developmental disorder
4. Specific genetic cause of fetal alcohol-related developmental disorders found
5. Genetic marker linked to problem behaviors in adults with developmental disabilities
6. Developmental delay could stem from nicotinic receptor deletion
7. Chinese scientists discover marker indicating the developmental potential of stem cells
8. Tufts wins NCRR grant for Collaborative Cluster in Genome Structure and Developmental Patterning
9. Developmental problems: Some exist in the genes
10. Fertilizer chemicals linked to animal developmental woes
11. Developmental gene-environment interactions: A model for psychosis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/20/2017)... Delta (NYSE: DAL ) customers now can use ... Reagan Washington National Airport (DCA). ... Delta launches biometrics to board aircraft at Reagan Washington ... Delta,s biometric boarding pass experience that ... integrated into the boarding process to allow eligible Delta SkyMiles Members who ...
(Date:5/23/2017)... , May 23, 2017  Hunova, the first robotic gym for the ... been officially launched in Genoa, Italy . The first ... and the USA . The technology was developed ... market by the IIT spin-off Movendo Technology thanks to a 10 million ... News Release, please click: ...
(Date:4/24/2017)... WASHINGTON , April 24, 2017 ... counsel and partner with  Identity Strategy Partners, LLP ... "With or without President Trump,s March 6, ... Foreign Terrorist Entry , refugee vetting can be instilled ... refugee resettlement. (Right now, all refugee applications are ...
Breaking Biology News(10 mins):
(Date:10/9/2017)... , ... October 09, 2017 , ... At its national ... Christopher Stubbs, a professor in Harvard University’s Departments of Physics and Astronomy, has been ... a member of the winning team for the 2015 Breakthrough Prize in Fundamental physics ...
(Date:10/7/2017)... ... October 06, 2017 , ... ... consulting for microscopy and surface analysis, Nanoscience Instruments is now expanding into ... a broad range of contract analysis services for advanced applications. Services will ...
(Date:10/6/2017)... ... October 06, 2017 , ... The HealthTech Venture Network ... at their fourth annual Conference where founders, investors, innovative practitioners and collaborators are ... pitch competition showcasing early stage digital health and med tech companies. , This ...
(Date:10/5/2017)... ... 05, 2017 , ... Understanding the microbiome, the millions of bacteria that live ... You Are My Future, the newest exhibit on display at the University City Science ... condition through the lens of the gut microbiome. , Gut Love opens October ...
Breaking Biology Technology: