OHSU discovery may lead to new treatment for Rett Syndrome

January 27, 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.

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.

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.
-end-
Additional study authors include: Anke Vermehren-Schmaedick, Ph.D., OHSU Department of Biomedical Engineering; Victoria K. Jenkins, B.A., who is currently pursuing her doctorate at Boston University; and Sharon J. Knopp, a research assistant in Bissonnette's lab.

The study was supported by grants from the National Heart, Lung, and Blood Institute of the National Institutes of Health; March of Dimes; and International Rett Syndrome Foundation.

ABOUT OHSU

Oregon Health & Science University is the state's only health and research university. As Portland's largest employer, OHSU's size contributes to its ability to provide many services and community support activities not found anywhere else in the state. OHSU serves patients from every corner of the state and is a conduit for learning for more than 4,300 students and trainees. OHSU is the source of more than 200 community outreach programs that bring health and education services to each county in the state.

Oregon Health & Science University

Related Neuroscience Articles from Brightsurf:

Researchers rebuild the bridge between neuroscience and artificial intelligence
In an article in the journal Scientific Reports, researchers reveal that they have successfully rebuilt the bridge between experimental neuroscience and advanced artificial intelligence learning algorithms.

The evolution of neuroscience as a research
When the first issue of the JDR was published, the field of neuroscience did not exist but over subsequent decades neuroscience has emerged as a scientific field that has particular relevance to dentistry.

Diabetes-Alzheimer's link explored at Neuroscience 2019
Surprising links exist between diabetes and Alzheimer's disease, and researchers are beginning to unpack the pathology that connects the two.

Organoid research revealed at Neuroscience 2019
Mini-brains, also called organoids, may offer breakthroughs in clinical research by allowing scientists to study human brain cells without a human subject.

The neuroscience of autism: New clues for how condition begins
UNC School of Medicine scientists found that a gene mutation linked to autism normally works to organize the scaffolding of brain cells called radial progenitors necessary for the orderly formation of the brain.

Harnessing reliability for neuroscience research
Neuroscientists are amassing the large-scale datasets needed to study individual differences and identify biomarkers.

Blue Brain solves a century-old neuroscience problem
In a front-cover paper published in Cerebral Cortex, EPFL's Blue Brain Project, a Swiss Brain Research Initiative, explains how the shapes of neurons can be classified using mathematical methods from the field of algebraic topology.

Characterizing pig hippocampus could improve translational neuroscience
Researchers have taken further steps toward developing a superior animal model of neurological conditions such as traumatic brain injury and epilepsy, according to a study of miniature pigs published in eNeuro.

The neuroscience of human vocal pitch
Among primates, humans are uniquely able to consciously control the pitch of their voices, making it possible to hit high notes in singing or stress a word in a sentence to convey meaning.

Study tackles neuroscience claims to have disproved 'free will'
For several decades, some researchers have argued that neuroscience studies prove human actions are driven by external stimuli -- that the brain is reactive and free will is an illusion.

Read More: Neuroscience News and Neuroscience Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.