Thursday, August 25, 2011

Two must-read up-to-date summaries

Here are two articles with an up-to-date summary of research findings in brain imaging and genetics.

Soo-Eun Chang wrote the first review Using Brain Imaging to Unravel the Mysteries of Stuttering. She has been spending a lot of years brain imaging at the NIH under Christy Ludlow, and has now moved for more independent research. I met her and Christy at NIH a few years ago. She is modest and diligent. Expect her review to be the same: measured and well-researched.

Drayna and Kang have a review on genetics research Genetic approaches to understanding the causes of stuttering (though expect that they talk a lot about their research) with the following abstract:
Stuttering is a common but poorly understood speech disorder. Evidence accumulated over
the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to identify specific chromosomal loci at which causative genes are likely to reside. A detailed investigation of one such region on chromosome 12 has identified mutations in the GNPTAB gene that are associated with stuttering in large families and in the general population. Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes. Mutations in these genes disrupt the lysosomal targeting pathway that generates the Mannose 6-phosphate signal, which directs a diverse group of enzymes to their target location in the lysosome of the cell. While mutations in these three genes can be identified in less than 10% of cases of familial stuttering, this knowledge allows a variety of new studies that can help identify the neuropathology that underlies this disorder.
So if you want to be up-to-date, read those two review articles!

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