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From: Dennis Drayna
Date: 17 Oct 2011
Time: 15:25:21 -0500
Remote Name: 165.112.47.66
Fortunately, there are many ways in which our genetic findings can be exploited to understand the underlying cause of stuttering, which is often referred to as the pathophysiology of the disorder. We have just published a paper in the Journal of Biological Chemistry which shows that functional deficits in the enzymes encoded by these genes are identifiable as the result of the mutations we've found in stuttering. In addition, we're in the process of doing detailed studies of the human brain to identify the brain regions in which the function of these enzymes is particularly critical. This is a first step in finding the individual cells within the brain that are specifically affected by these mutations. Since our genetic findings to date can only explain a modest fraction of stuttering, we clearly have a long way to go, but our current studies will hopefully pave the path to an understanding of exactly what is amiss in individuals who stutter.