Understanding and rescuing respiratory arrhythmias in a mouse model of Rett Syndrome

Reference:
Ana Abdala Sheikh

Abstract:
Breathing is the most important process controlled by the brain; it is a rhythm that happens non-stop from birth until death. It constantly changes to allow for other behaviors such as speech, singing, exercising, eating, drinking, coughing. Frequent periods of breath holding are a very common feature of Rett syndrome. When severe, the breathing irregularity can be distressing for both patients and parents reducing the quality of life and general health of Rett syndrome girls. This symptom has also been associated with sudden death, and currently there are no successful treatments to alleviate the breathing irregularities from Rett syndrome. In this project, the applicant will confirm that the brain cells from the Kölliker-Fuse area of the brain which control the duration of exhalation are overly excited in a mouse model of Rett syndrome and will verify whether this is the main reason for the breathing abnormalities. She will also identify substances that control the activity of these cells in order to find therapeutic alternatives for treating this symptom. Finally, she will also test a combination of two drugs, Riluzole and Buspirone, to try to treat the breathing irregularities in the mouse model. These two drugs are already used to treat children for other clinical conditions, but could be effective in treating Rett syndrome over a dose range that is neither sedative nor depresses breathing.

See more at: http://www.rettsyndrome.org/research-programs/funded-projects/research-awardees-2011#sthash.dd1Ofrop.dpuf

PROJECT DETAILS 

beginning: 2011.

end: 2013.

Country of research: United Kingdom

Counry of funding source: United States

Funding organization: International Rett Syndrome Foundation (Postdoctoral Fellowship Grant)

Financing: PRIVATE FUNDERS – 146 872 €

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