With a $18,500 grant from FRAXA Research Foundation in 2006, Dr. Stephanie Ceman at the University of Illinois studied Fragile X in zebra finches to better understand the impairments of verbal expression in individuals with Fragile X syndrome. Results published.
Graduate Student (2006)
The Ceman lab studied the mechanisms by which the activity of the Fragile X protein (FMRP) is regulated. They looked at how the protein can be switched on and off by chemically modifying (phosphorylating) it, leading to new enhanced understanding of the signaling pathways involved in Fragile X. They worked with a new model of Fragile X in songbirds, which may be especially useful for understanding how Fragile X impairs language.
by Stephanie Ceman, 3/1/2006
Individuals with Fragile X syndrome (FXS) often have delayed and affected speech. FXS speech can be arrhythmic, repetitious, or run together, making it difficult to comprehend. We will study the underlying mechanism for this altered speech, and how it is related to the absence of the Fragile X protein, FMRP, by developing a new animal model: the songbird. Birdsong can be used to study human speech because songbirds, like humans, are vocal learners – that is, both young songbirds and children must learn proper vocalization from a ‘tutor’ and must have normal hearing in order to do so. For a songbird, the tutor is typically the father, as only male birds sing. The first part of our study is to characterize Fmrp in the areas of the songbird brain involved in song, termed the ‘song control circuit’. This circuit, which has been studied extensively, includes regions of the brain shown to be involved in human speech as well as FXS. Next we will eliminate FMRP expression in specific regions of the brain and examine the effect on song learning. This study will give us insight into the speech pathology of FXS.