Discovery may lead to new treatment for Rett Syndrome

Monday, January 30, 2012

Researchers at Oregon Health & Science University (http://www.ohsu.edu) have discovered that a molecule critical to the development and plasticity of nerve cells ? brain-derived neurotrophic factor (BDNF) -- is severely lacking in brainstem neurons in mutations leading to Rett syndrome, a neurological developmental disorder. The finding has implications for the treatment of neurological disorders, including Rett syndrome that affects one in 10,000 baby girls.

Using a mouse model of Rett syndrome, the OHSU team found that mutant neurons in the brainstem fail miserably at making BDNF. When normal neurons are faced with a respiratory challenge, such as low oxygen, they dramatically increase the production of BDNF, whereas mutant neurons do not.

According to the National Institutes of Health, Rett syndrome is estimated to affect one in every 10,000 to 15,000 live births and almost exclusively girls because it is caused by an X-linked gene mutation. In addition to severe problems with motor function, other symptoms of Rett syndrome may include breathing difficulties while awake.

"The new finding, coupled with our previously published data that show BDNF is involved in normal maturation of neuronal pathways controlling cardiorespiratory function, could play a significant role in the development of a treatment for Rett syndrome," said Agnieszka Balkowiec, M.D., Ph.D., principal investigator and associate professor of integrative biosciences in the OHSU School of Dentistry; and adjunct assistant professor of physiology and pharmacology in the OHSU School of Medicine. To conduct this research, Balkowiec partnered with John M. Bissonnette, M.D., professor of obstetrics and gynecology, and cell and developmental biology in the OHSU School of Medicine.

###

The new discovery is published online in Neuroscience (http://www.sciencedirect.com/science/article/pii/S0306452212000395?v=s5) and is expected in the print issue of Neuroscience in March.

Oregon Health & Science University: http://www.ohsu.edu

Thanks to Oregon Health & Science University for this article.

This press release was posted to serve as a topic for discussion. Please comment below. We try our best to only post press releases that are associated with peer reviewed scientific literature. Critical discussions of the research are appreciated. If you need help finding a link to the original article, please contact us on twitter or via e-mail.

This press release has been viewed 29 time(s).

Source: http://www.labspaces.net/117162/Discovery_may_lead_to_new_treatment_for_Rett_Syndrome

coachella 2012 lineup critics choice awards 2012 honey badger colbert president huntingtons disease rob the firm